List of works by John Marius Opitz

"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment

scientific article published in December 1990

"Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome.

scientific article published in January 2006

'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3).

scientific article

2011 William Allan Award: development and evolution

scientific article (publication date: 9 March 2012)

50 years ago in The Journal of Pediatrics: the Cornelia de Lange syndrome

scientific article published in November 2013

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

article

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

scientific article published on 12 January 2018

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

scientific article published on 10 March 2017

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

scientific article

A biologic and genetic study of 40 cases of severe pure mental retardation

scientific article published on March 18, 1977

A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome

article

A chicken consultation with ramifications.

scientific article published in April 2005

A clinico-genetic investigation of Leydig cell hypoplasia

article

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

scientific article published on 31 January 2017

A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia

scientific article published on 15 March 2011

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

scientific article published on October 2004

A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases

scientific article

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome ⬇️

scientific article published on November 1, 1983

A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother

scientific article published on 01 August 1980

A fifty-year-old man with skin pigmentation, arthritis, chronic renal failure and methemoglobinemia

scientific article published on 01 January 1983

A new autosomal dominant acrofacial dysostosis syndrome

scientific article published on January 1986

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

scientific article published on 20 November 2013

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

scientific article

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

scientific article

A severe form of congenital contractural arachnodactyly in two newborn infants

article

A severe infantile micromelic chondrodysplasia which resembles Kniest disease

scientific article published on 01 August 1976

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.

scientific article published in October 1965

A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t(6;19).

scientific article published in January 1974

ADAM "sequence" part II: hypothesis and speculation.

scientific article published on 21 January 2015

Abnormal bone development: histopathology of skeletal dysplasias

scientific article published on January 1996

Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients ⬇️

scientific article published on 01 June 2003

Absence of spermatogonia in the Prader-Willi syndrome

scientific article published on March 18, 1977

Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis

scientific article

Acromesomelic dwarfism: Manifestations in childhood

article

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.

scientific article published in March 2004

Alpha-aminoadipic aciduria, a non-deleterious inborn metabolic defect.

scientific article

An X-linked recessive basal ganglia disorder with mental retardation

scientific article published on August 1985

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

scientific article

An amnion implantation hypothesis: a conceptual framework for mechanism-based studies of amnion adhesion

scientific article published on 23 January 2014

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.

scientific article

An evolutionary and developmental biology approach to gastroschisis

scientific article published on 28 February 2019

An inner god: BEN E. KATZ (1921-2015) as geneticist.

scientific article published on 14 July 2015

An unusual bandlike web in an infant with lethal multiple pterygium syndrome

An unusual dysplasia-malformation-cancer syndrome in two patients

scientific article published on 01 January 1978

Analysis of etiologic factors in cerebral palsy with severe mental retardation. I. Analysis of gestational, parturitional and neonatal data

scientific article published on September 1, 1976

Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH.

scientific article published on 15 July 2016

Annals of morphology. Atavisms: phylogenetic Lazarus?

scholarly article by Ginevra Zanni & John Marius Opitz published November 2013 in American Journal of Medical Genetics

Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes

scientific article published on 01 July 1984

Apparent encephalocele in twin fetus papyraceus with twin-reversal arterial perfusion

scientific article published on 01 February 2003

Arno G. Motulsky, 1923-2018, Luck and Service

scientific article published on 25 April 2018

Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome

scientific article

Arthrodentoosteodysplasia: a genetic "acroosteolysis" syndrome.

scientific article

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk

article

Autopsy findings in a stillborn female infant with the Osebold-Remondini syndrome

Autosomal dominant and sporadic radio-ulnar synostosis.

scientific article published in January 1997

Autosomal dominant recurrent encephalopathy of childhood

scientific article published on 01 May 1983

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

scientific article published on 01 December 1996

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism* ⬇️

scientific article published on May 1, 1975

Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation ⬇️

scientific article published on March 1, 1976

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

scientific article published in December 2008

Behold the CHILD

scientific article published on 01 February 2000

Bibliography of X-linked mental retardation and related subjects. III. (1986).

scientific article published in January 1986

Bibliography on X-linked mental retardation and related subjects II (1985).

scientific article published in August 1985

Bibliography on X-linked mental retardation, the fragile X and related subjects IV (1988).

scientific article published in May 1988

Bibliography on X-linked mental retardation, the fragile X, and related subjects V (1991).

scientific article published in February 1991

Biographical note--Laurence H. Snyder.

scientific article published in January 1981

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

scientific article

Brachymesomelia-renal syndrome

scientific article published on May 1983

Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance".

scientific article published on March 1983

Brief historical note: The concept of “gonadal dysgenesis” ⬇️

scientific article published on January 1, 1979

CFC syndrome

scientific article published on 01 February 2003

CNS anomalies and the midline as a "developmental field"

scientific article published on 01 August 1982

Categorization of common arterial trunk

scientific article published on 01 November 2011

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia

scientific article

Cervical ribs are more prevalent in stillborn fetuses than in live-born infants and are strongly associated with fetal aneuploidy

scientific article

Chiari I malformation in patients with FG syndrome

scientific article

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions

scientific article

Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conference ⬇️

scientific article published on May 1, 1994

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants

scientific article published on September 1, 1976

Clinical cytogenetics: part 1.

scientific article

Clinical cytogenetics: part 2.

scientific article

Clinicopathologic conference: a six-month-old infant with sudden onset of metabolic acidosis and shock

scientific article published on 01 January 1982

Clinicopathologic conference: a three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment

scientific article published on 01 January 1980

Clinicopathological conference: A 29-yr-old man with recurrent episodes of fever, abdominal pain, and vomiting ⬇️

scientific article published on June 1, 1984

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria

scientific article published on September 1985

Colophon: vere dignum et justum est ... an unedited MS.

scientific article published in October 2006

Comment: The midline.

scientific article published on 29 July 2015

Comments on biological asymmetry.

scientific article published in July 2001

Complete absence or deficiency of one half of the body.

scientific article published in March 1998

Comptes rendus du 1er congrés international de neuro-génétique et neuro-ophtalmologie (Albi France, 27–30 May 1965)

Congenital abnormalities in two sibs exposed to valproic acid in utero

Congenital and Familial Iron Overload ⬇️

scientific article published in March 1969

Congenital perineal hernia in a fetus with trisomy 18.

scientific article published in January 2009

Conjoined twins: morphogenesis of the heart and a review.

scientific article

Craniosynostosis and craniosynostosis syndromes

scientific article published on 01 May 1969

Cutis marmorata telangiectatica congenita

scientific article published on 01 January 1974

DEFECTS OF BLASTOGENESIS

Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease

scientific article published in September 1977

Defects of blastogenesis

scientific article

Del(20p) with manifestations of arteriohepatic dysplasia

article

Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene

scientific article published on 24 March 2011

Development: clinical and evolutionary considerations.

scientific article

Developmental abnormalities resulting in short umbilical cord

scientific article

Developmental terms—some proposals: First report of an International working group ⬇️

scientific article published on January 1, 1979

Diagnostic/genetic studies in severe mental retardation

scientific article published on January 1, 1978

Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes

scientific article published on 01 February 1983

Discovery of a connective tissue dysplasia in the Martin-Bell syndrome

scientific article published on January 1984

Disequilibrium syndrome in Montana Hutterites.

scientific article published in November 1985

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

Documentation of anomalies not previously described in Fryns syndrome.

scientific article published in January 2003

Dominantly inherited renal adysplasia

article

Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery

scientific article

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients

scientific article

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

scientific article (publication date: March 2003)

Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac

Ectopia cordis, midline defects and chromosome abnormalities: An epidemiologic perspective

Editorial comment on McPherson and Cold

scientific article published on 23 September 2015

Editorial comment on the CPC by tripp et al: “Fever and abdominal pain in a young woman with the down syndrome and eisenmenger complex”: Down syndrome and death of the mentally retarded ⬇️

scientific article published on February 1, 1983

Elements of morphology: general terms for congenital anomalies.

scientific article published on 3 October 2013

Elements of morphology: standard terminology for the external genitalia.

scientific article published on 6 May 2013

Elements of morphology: standard terminology for the periorbital region.

scientific article published in January 2009

Encomium and dedication: Angelo Serra--four decades in human and medical genetics

scientific article published in January 1990

Errors of morphogenesis and developmental field theory

scientific article published on April 1998

Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

scientific article published in January 1982

Essential tremor, nystagmus and duodenal ulceration: A “new” dominantly inherited condition* ⬇️

scientific article published on 01 January 1976

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

scientific article published on November 1997

Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies

scientific article published on July 2001

Experimentally induced cardiovascular malformations in the chick embryo. Part II. Teratogenic effect of Tedral (theophylline, ephedrine, and phenobarbital) on cardiac development in chick embryos

scientific article published on 01 January 1987

FG syndrome update 1988: note of 5 new patients and bibliography

scientific article published on May 1988

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

scientific article

Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical cases.

scientific article

Familial Kallmann syndrome with unilateral renal aplasia

scientific article published on May 1, 1975

Familial bilateral renal agenesis and hereditary renal adysplasia ⬇️

scientific article published on August 31, 1973

Familial broad terminal phalanges with one individual showing additional anomalies

Familial broad terminal phalanges with one individual showing additional anomalies.

scientific article published in August 1997

Familial cardiac lipidosis

scientific article published on 01 January 1974

Familial de Lange syndrome with chromosome abnormalities

scientific article published on 01 June 1966

Familial hemophagocytic lymphohistiocytosis: report of four cases in two families and review of the literature

scientific article published on January 1985

Familial hydronephrosis.

scientific article

Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome* ⬇️

scientific article published on March 1, 1976

Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait?

scientific article published in February 1977

Fetus-in-fetu form of monozygotic twinning with retroperitoneal teratoma

scientific article published on 01 July 2003

Fibular a/hypoplasia: review and documentation of the fibular developmental field

scientific article published on January 1986

Follow-up on a human X-autosome translocation first studied in 1963 and 1964

scientific article published on January 1, 1978

Fraser syndrome

scientific article published on 01 January 2008

Further comments on the lissencephaly syndromes

scientific article

Further delineation of the C (trigonocephaly) syndrome

scientific article

GAPO syndrome (McKusick 23074)—A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older

article

GAUDEAMUS IGITUR…In gratitude to John Carey for his stewardship of the American Journal of Medical Genetics 2001-2016.

scientific article published on 19 August 2016

Galton, David J. 2015.<i>Man of Science, Man of God</i><b>-Gregor Mendel</b>-Discovering the Gene-For his 150th anniversary. Great Britain, Timaeus Press, 227 pp. Paperback-Proofs received for review. Price?

scientific article published in 2016

Geleophysic dwarfism--a "focal" mucopolysaccharidosis?

Geleophysic dysplasia

scientific article published on 01 November 1984

Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study

scientific article

Generalized lymphangiectasis associated with chylothorax; a possible dysplasia of the lymphatic system ⬇️

scientific article published on January 1, 1974

Genes and Mechanisms in Vertebrate Sex Determination.The Genetics and Biology of Sex Determination

scientific article published in March 2003

Genetic caring. the professionalization of genetic services in the USA

scientific article published on 01 January 1979

Genetic causes and workup of male and female infertility 2. Abnormalities presenting between birth and adult life ⬇️

scientific article published on June 1, 1979

Genetic causes and workup of male and female infertility 3. Details of the clinical evaluation ⬇️

scientific article published on July 1, 1979

Genetic causes and workup of male and female infertility. 1. Prenatal reproductive loss

scientific article published on May 1, 1979

Genetic counseling

scientific article published on 01 January 1980

Genetic heterogeneity in spondyloepiphyseal dysplasia congenita

Genetic patient evaluation

scientific article published on November 1, 1977

Genetics of tethered cord "syndrome": The FG syndrome

scientific article published on 01 February 2005

Genitourinary anomalies of pediatric FG syndrome.

scientific article published on 15 June 2007

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

scientific article

Goethe's bone and the beginnings of morphology.

scientific article published in April 2004

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism

scientific article published on January 1, 1977

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg

scientific article

Hamartoma syndromes, exome sequencing, and a protean puzzle.

scientific article

Hemodynamic mechanisms in cardiac malformations

scientific article

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome

article

Hereditary splenomegaly with hypersplenism.

scientific article

Heterogeneity and minor anomalies

scientific article published on 01 April 2000

Heterogeneity and minor anomalies

scientific article published on 01 June 2000

Heterogeneity of Chondrodysplasia punctata ⬇️

scientific article published on 01 January 1971

Heterogeneity of cardio-facio-cutaneous syndrome

scientific article published on 01 November 2000

Heterogeneity of nonlethal severe short-limbed dwarfism

scientific article published on December 1, 1977

Historical perspective on developmental concepts and terminology.

scientific article published on 10 October 2013

Holzgreve-Wagner-Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation

article by E. Legius et al published October 1988 in American Journal of Medical Genetics Part A

Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection

scientific article

Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana

scientific article published in November 1985

I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.

scientific article published in January 1973

I-cell disease: a clinical picture.

scientific article

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

scientific article published on 16 March 2017

In gratitude for an undeserved gift

scientific article published on 29 March 2017

In memoriam: Petrus Johannes Waardenburg, 1886--1979.

scientific article published in January 1980

Inherited translocation t(4;5) discovered on prenatal diagnosis ⬇️

scientific article published on January 1, 1981

International System for Human Gene Nomenclature (1979) ISGN (1979).

scientific article published in January 1980

International nosology of heritable disorders of connective tissue, Berlin, 1986

International system for human gene nomenclature (1979) ISGN (1979).

scientific article published on January 1979

Intrauterine amputations after amniocentesis

scientific article published on 01 April 1978

Introduction--a Pallister jubilee

scientific article published on 25 November 2014

Invited comment: gastroschisis

scientific article published on 01 April 2007

Invited editorial comment: further reflections on gastroschisis

scientific article published on 01 August 2008

Jacqueline A. Noonan

scientific article published on 24 October 2020

Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies ⬇️

scientific article published on January 1, 1972

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: Novel association or syndrome?

scientific article published on 01 June 2001

Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings.

scientific article

Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation

scientific article published on 09 November 2011

Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome

scientific article published on 01 May 1974

Letter: Developmental mixoploidy and trisomy-20 syndrome

scientific article

Letter: Immunodeficiency in the cerebro-hepato-renal syndrome of Zellweger

scientific article published in February 1974

Letter: Sequential fetus-fetus interaction and C.N.S. defects ⬇️

scientific article published on July 3, 1976

Letter: Trisomy-20 syndrome in man.

scientific article

Letter: Twinning and illegitimacy in C.N.S. defects.

scientific article

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses

scientific article published on 01 February 1999

Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al

scientific article published on 01 January 1987

Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: A “new” syndrome?

MENDEL: Morphologist and Mathematician Founder of Genetics - To Begin a Celebration of the 2015 Sesquicentennial of Mendel's Presentation in 1865 of his Versuche über Pflanzenhybriden

scientific article published on January 2015

Male-to-male transmission in Laurin-Sandrow syndrome and exclusion ofRARBandRARG

article

Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome?

scientific article published in August 1989

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency.

scientific article published on 19 September 2011

Meckel on developmental pathology.

scientific article published in January 2006

Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

scientific article published on 01 August 2001

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Meier-Gorlin syndrome: report of eight additional cases and review.

scientific article

Meinhard Robinow: an appreciation

scientific article

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

scientific article published in April 2004

Mental retardation: An atlas of diseases with associated physical abnormalities.

scientific article published in July 1974

Microcephaly: general considerations and aids to nosology

scientific article

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

scientific article published in January 2005

Minamata disease. A case report and a comparative study

scientific article published in December 1973

Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue

scientific article published on 10 May 2013

Mortality and pathological findings in C (Opitz trigonocephaly) syndrome

scientific article published on July 2006

Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.

scientific article published in July 2000

Multiple pterygium syndrome

scientific article published on 01 January 1980

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

scientific journal article

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

scientific article

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

scientific article

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

scientific article

NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome

scientific article published on November 1985

Naming and nomenclature of syndromes

scientific article published on January 1, 1974

Neural tube defects as an X-linked condition

article

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

scientific article

Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies

scientific article published on 01 July 1981

Nosologic Grouping in Birth Defects

Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair

article

Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany

article

Obesity: Genetic, molecular, and environmental aspects

scientific article

Of mice and cats (both calico): Mary F Lyon, FRS (1925-2014)

scientific article published on 05 May 2015

Omenn Disease: Termination in Lymphoma

scientific article published on 01 January 1985

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

scientific article

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

scientific article

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

scientific article published on March 1996

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

scientific article

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

scientific article published on 21 June 2011

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

scientific article published in January 2003

Paramyotonia congenita (eulenburg).

scientific article published in May 1971

Part I. Amyoplasia: A common, sporadic condition with congenital contractures

article

Pathogenetic analysis of congenital anomalies in humans

scientific article published on January 1982

Pathology of chondrodysplasia punctata rhizomelic type

scientific article published on January 1974

Pathology of chromosome abnormalities in the fetus--pathologic markers

scientific article published on 01 January 1987

Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 → 14qter) ⬇️

scientific article published on January 1, 1977

Perinatal mortality due to interaction of diphenhydramine and temazepam.

scientific article published in November 1985

Perrault syndrome: Evidence for progressive nervous system involvement

article

Phenotypes, pleiotropy, and phylogeny.

scientific article

Phenotypic effects of inherited balanced translocation

scientific article

Philip D. Pallister of Montana

scientific article published on 20 December 2018

Polyhydramnios and neonatal hemorrhage in three sisters. A circumvallate placenta syndrome?

scientific article published on 01 January 1974

Polytopic anomalies with agenesis of the lower vertebral column

scientific article

Premature closure of the foramen ovale secondary to congenital aortic valvular stenosis in a stillborn

scientific article published on 13 February 2012

Prenatal death in Fraser syndrome

scientific article published in July 2005

Prenatal death in Smith-Lemli-Opitz/RSH syndrome

scientific article published on 01 September 2005

Prenatal diagnosis of genetic osteochondrodysplasias

article

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.

scientific article published in January 1999

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges

scientific article published on 01 November 1998

Principles of genetics applied to medicine

scientific article

Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs

scientific article

Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome

article

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

scientific article published in February 1995

Pseudoaminopterin syndrome and trisomy 9

scientific article published on 01 July 2004

Pseudovaginal perineoscrotal hypospadias

scientific article published on 01 January 1972

RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi

scientific article published on 01 November 2006

RSH (so-called Smith-Lemli-Opitz) syndrome

scientific article

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

scientific article

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

scientific article published on 01 July 2010

Reflections on the pathogenesis of Down syndrome

article

Remembered: Elisabeth G. Kaveggia.

scientific article published on 13 February 2015

Remembered: F. Clarke Fraser.

scientific article published on 21 April 2015

Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure

scientific article published on 01 January 1983

Response to Li and Liu's “Darwin's statements on reversion or atavism”

scientific article published on 06 May 2014

Restrictive dermopathy: report and review

scientific article published on January 2008

Rett syndrome bibliography

scientific article published on January 1986

Santos syndrome is caused by mutation in the WNT7A gene

scientific article published on 31 August 2017

Scott Rogers on dinosaur behavior, in: the annals of morphology

scholarly article by John Marius Opitz published 1 May 2005 in American Journal of Medical Genetics

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

scientific article published on 7 October 2015

Second Pallister-Opitz Genetics Symposium, Helena, Montana, July 2015

scientific article published on 04 March 2016

Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies

scientific article published on 01 March 1987

Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?

scientific article

Sensorineural deafness in the FG syndrome: report on four new cases

scientific article published on 01 October 1984

Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome

scientific article

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

scientific article published on March 1995

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

scientific article

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome

scientific article published on 01 May 1988

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

scientific article published in November 2013

Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family

scientific article published on 01 May 1988

Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

scientific article published on 01 August 2003

Sixty years of X-linked mental retardation: a historical footnote

scientific article published on January 2000

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

scientific article published on 01 April 2003

Smith-Lemli-Opitz (RSH) syndrome bibliography

scientific article published on 01 November 1987

Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993

scientific article published on 01 May 1994

Smith-Lemli-Opitz syndrome in Japan

scientific article published in January 1998

Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?

article

Some comments on penetrance and related subjects

scientific article published on 01 January 1981

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

scientific article

Splenogonadal fusion-limb defect "syndrome" and associated malformations.

scientific article published in August 2003

Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome

scientific article published in January 1971

Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattsch�del and multiple visceral anomalies ⬇️

scientific article published on January 1, 1975

Studies of malformation syndromes in man XXXX: Multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father) ⬇️

scientific article published on November 13, 1975

Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development

scientific article published on 01 January 1976

Studies of malformation syndromes in man. XXVII. The N syndrome, a "new" multiple congenital anomaly-mental retardation syndrome.

scientific article published in January 1974

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family

scientific article published in June 1982

Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

scientific article

Studies of malformation syndromes of man VB: the hypertelorism-hypospadias (BBB) syndrome. Case report and review

scientific article published on April 26, 1977

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology ⬇️

scientific article published on January 2, 1976

Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome ⬇️

scientific article published on July 1, 1977

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases

scientific article published on October 1, 1976

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

article

Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".

scientific article

Studies of malformation syndromes of man XXXVIII: The BD syndrome. A "new" multiple congenital anomalies/mental retardation syndrome with athetoid cerebral palsy

scientific article published on September 11, 1975

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome ⬇️

scientific article published on April 6, 1976

Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome ?A pathogenetic hypothesis ⬇️

scientific article published on April 6, 1976

Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister

scientific article published on November 3, 1976

Sudden infant death due to congenital adrenal hypoplasia

scientific article published on April 1, 1977

Sudden infant death “syndrome”-Insights and future directions from a Utah population database analysis

scientific article published on 28 October 2016

Symposium on surgical and medical management of congenital anomalies of the eye

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

scientific article

Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998]

scientific article published on 01 August 1998

Syndrome delineation. 1. Malformations and dysplasias

scientific article published on January 1, 1979

Syndrome delineation. 2. Inborn errors of metabolism, deformities, and variant familial developmental patterns

scientific article published on February 1, 1979

Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited ⬇️

scientific article published on July 1, 1975

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome

scientific article published on April 1984

THE CORNELIA DE LANGE SYNDROME.

scientific article

Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies

scientific article published on April 1984

Teratomas in children and young adults ⬇️

scientific article published on January 1, 1979

Terminological, Diagnostic, Nosological, and Anatomical-Developmental Aspects of Developmental Defects in Man ⬇️

scientific article published on January 1, 1979

Tetraectrodactyly and other skeletal manifestations in the fetal alcohol syndrome.

scientific article published in May 1980

Thanatophoric dysplasia and cloverleaf skull

scientific article published on January 1987

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

scientific article

The FG syndrome from a pathological perspective.

scientific article published in January 2011

The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008.

scientific article

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus

scientific article published in July 1965

The Gordon syndrome: autosomal dominant cleft palate, camptodactyly, and club feet

scientific article published on 01 January 1981

The Johanson-Blizzard syndrome: case report and autopsy findings

scientific article

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies

scientific article published on January 1, 1975

The KOP translocation

scientific article published on January 1, 1978

The MIller-Dieker syndrome

scientific article published on 01 August 1980

The Montana Fetal Genetic Pathology Program and a review of prenatal death in humans

scientific article

The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies ⬇️

scientific article published on September 1, 1984

The Perlman syndrome: clinical and biological aspects

scientific article published on 01 January 1985

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

scientific article published in November 2013

The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote

scientific article published on 11 October 2012

The SC phocomelia and the Roberts syndrome: nosologic aspects

scientific article published on June 1, 1977

The Stickler syndrome

scientific article published on 01 January 1975

The Stickler syndrome

scientific article published on 01 March 1972

The Stickler syndrome (hereditary arthroophthalmopathy)

scientific article published on January 1, 1975

The VSR syndrome. Studies of malformation syndromes of man XXXII

scientific article published on 01 January 1974

The W syndrome. Studies of malformation syndromes of man XXVIII

scientific article published on 01 January 1974

The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia

scientific article

The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign.

scientific article

The Work of Becerra-Solano et al. (2008) on Amniotic Disruption-Adhesion-Mutilation (ADAM or DAB) Sequence Deserves Comment

scientific article published on 07 January 2019

The XY Gonadal Agenesis Syndrome ⬇️

scientific article published on September 1, 1973

The campomelic syndrome--comments.

scientific article

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

scientific article published on May 1983

The cardiofaciocutaneous syndrome

scientific article

The de Lange syndrome

scientific article published in March 1972

The developmental field concept in pediatric pathology--especially with respect to fibular a/hypoplasia and the DiGeorge anomaly.

scientific article published in January 1987

The dup(3q) syndrome: report of eight cases and review of the literature

scientific article published on January 1981

The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome* ⬇️

scientific article published on May 1, 1975

The face in genetic disorders

The neurofaciodigitorenal (NFDR) syndrome.

scientific article published in March 1982

The pallister mosaic syndrome

scientific article published on 01 January 1977

The pathologic anatomy of the G syndrome ⬇️

scientific article published on 01 January 1972

The pathology of some malformations and hereditary diseases of the respiratory tract

scientific article published on January 1, 1976

The perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness ⬇️

scientific article published on January 1, 1979

The power of stories in Pediatrics and Genetics

scientific article

The second conference on the clinical delineation of birth defects

scientific article published in July 1972

The short umbilical cord

scientific article published in January 1987

The study of genetic diseases and malformations.

scientific article

The syndromes of Sotos and Weaver: reports and review

scientific article published in October 1998

The trisomy 4p syndrome: Case report and review ⬇️

scientific article published on January 1, 1977

The value of examining spontaneously aborted human embryos and placentas

scientific article published on 01 January 1987

To the Editor: Concerning Rajagopal MD et al

scientific article published on 11 April 2016

To the Editor: Concerning Rodriguez et al

scientific article published on 20 August 2015

Transitory hypogammaglobulinemia of infancy in FG syndrome

scientific article published on 01 November 2005

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

scientific article

Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity?

scientific article published on 01 January 1986

Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomaly

scientific article published on 01 January 2011

Use of genetic counselling services for neural tube defects

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.

scientific article published in August 2011

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

scientific article

Virilism as a late manifestation in the Bardet-Biedl syndrome

scientific article published on 01 January 1980

Why is the construction: Hypoplastic left heart "syndrome" a misnomer? And: What is a syndrome, anyhow?

scientific article published on 13 January 2011

Wolf-Hirschhorn syndrome (WHS): a history in pictures

scientific article published on 01 January 2000

X-linked aqueductal stenosis: clinical and neuropathological findings in two families

scientific article published in April 1973

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

article

X-linked hydrocephalus. Further observations ⬇️

scientific article published on January 1, 1975

XK-aprosencephaly and related entities

scientific article published on 01 November 2005

[The campomelic syndrome]

scientific article published on 01 May 1971

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