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List of works by David Rimoin

"Baby rattle" pelvis dysplasia

scientific article published in April 2001

"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias

scientific article

2006 ASHG Leadership Award. A half century of medical genetics--where do we go from here?

scientific article published on October 2007

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

scientific article

A METABOLIC AND HORMONAL BASIS FOR CLASSIFYING ATELIOTIC DWARFS

scientific article published in The Lancet

A distinct chondrodysplasia resembling Kniest dysplasia: Clinical, roentgenographic, histologic, and ultrastructural findings ⬇️

scientific article published on 01 December 1983

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans

scientific article published on June 1996

A history of medical genetics in pediatrics.

scientific article published on 5 May 2004

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

scientific article published on March 1994

A lethal form of diastrophic dwarfism

scientific article published in January 1974

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

scientific article

A new autosomal dominant syndrome of hypohidrotic ectodermal dysplasia and unusual facies

scientific article published on 01 January 1979

A new autosomal recessive lethal chondrodystrophy with congenital hydrops ⬇️

scientific article published on March 1, 1988

A new skeletal dysplasia: clinical, radiologic, and pathologic findings

scientific article published in October 1986

A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis

scientific article published on 01 January 1977

A new variant of lethal neonatal short-limbed platyspondylic dwarfism

scientific article published on 01 March 1993

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691→Arg) in the type II collagen trimer

article

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

scientific article published on 24 December 2008

A search for heterogeneity in insulin dependent diabetes mellitus (IDDM): HLA and autoimmune studies in simplex, multiplex and multigenerational families ⬇️

scientific article published on 01 May 1983

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

scientific article published in November 1994

A syndrome of short stature, joint laxity and developmental delay

scientific article published in July 1982

A unique chondrodysplasia secondary to a defect in chondroosseous transformation

scientific article published on January 1, 1977

AN UNUSUAL VARIETY OF ENDOCRINE DWARFISM: SUBRESPONSIVENESS TO GROWTH HORMONE IN A SEXUALLY MATURE DWARF

scientific article published in The Lancet

Abnormal type II collagen in the spondyloepiphyseal dysplasias

scientific article published on 01 January 1988

Abnormalities of the penis in utero--hypospadias on fetal MRI

scientific article published on 02 June 2011

Abnormalities of the upper extremities on fetal magnetic resonance imaging

scientific article published on 01 November 2011

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity

scientific article published on June 1986

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

scientific article published on January 1988

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

scientific article

Achondroplasia and zinc deficiency

scientific article published on 01 September 1980

Achondroplasia with ankylosing spondylitis

scientific article published in September 1988

Achondroplastic dwarfism with generalized periosteal elevation in infancy

scientific article published on 01 January 1975

Additional comments on the ulcer-multiple lentigines syndrome

scientific article published on 01 February 1982

Alkaline and acid phosphatase demonstration in human bone and cartilage: effects of fixation interval and methacrylate embedments

scientific article

Allelic mutations in the mucopolysaccharidoses

scientific article published on January 1, 1976

An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

scientific article published on February 1995

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis ⬇️

scientific article published on November 5, 1992

An unusual short stature syndrome

scientific article published on January 1, 1975

Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).

scientific article published in June 2007

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

scientific article published on 14 August 2014

Arthrography of the hip. A clue to the pathogenesis of the epiphyseal dysplasias.

scientific article

Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood group

scientific article published on 01 October 1983

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

scientific article published in February 1996

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

scientific article

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues ⬇️

scientific article published on January 31, 2013

BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing ⬇️

scientific article published on October 8, 2010

Beta-glucuronidase deficiency mucopolysaccharidosis

scientific article published on 01 January 1974

Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome

scientific article

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families ⬇️

scientific article published on December 19, 1997

Brachyolmia: radiographic and genetic evidence of heterogeneity

scientific article published on June 1989

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

scientific article published in March 2003

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

scientific article

Calcospherite (calcification nodule) size in the short rib polydactyly syndromes

scientific article published in September 1990

Case report 655: Congenital glenoid dysplasia (congenital hypoplasia of the glenoid neck and fossa of the scapula, with accompanied deformity of humeral head, coracoid process, and acromion)

scientific article published on 01 January 1991

Case report 744. Deferoxamine-induced skeletal dysplasia

scientific article published on January 1, 1992

Cerebral gigantism - apparent dominant inheritance

scientific article published on January 1, 1976

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome

scientific article published on April 2002

Cervicomedullary compression with achondroplasia ⬇️

scientific article published on 01 August 1988

Chondro-osseous morphology and biochemistry in the skeletal dysplasias

scientific article published on January 1, 1981

Chondro-osseous pathology in the chondrodystrophies.

scientific article published in January 1976

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

scientific article published in July 1985

Chondroosseous histopathology in adenosine deaminase deficient combined immunodeficiency disease

scientific article published on 01 January 1976

Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome

scientific article published on 01 August 1986

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

scientific article

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

scientific article published on 30 May 2016

Clinical research in the United States at a crossroads: proposal for a novel public-private partnership to establish a national clinical research enterprise

scientific article published on March 2004

Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity

scientific article published on January 1, 1979

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

scientific article published in March 2003

Clinical--molecular correlations in the skeletal dysplasias

scientific article

Close genetic linkage between diabetes mellitus and kidd blood group ⬇️

scientific article published on October 24, 1981

Clubfeet and associated abnormalities on fetal magnetic resonance imaging

scientific article published on 08 June 2012

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update

scientific article published on January 1, 1992

Comparisons and correlations of skeletal defects in mouse and human

scientific article published in January 1988

Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards

scientific article published on 01 February 1985

Congenital macular colobomas and short-limb skeletal dysplasia

scientific article published on 01 January 1980

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study ⬇️

scientific article published on August 29, 2012

Cooperative research ethics review boards: a win-win solution?

scientific article

Craniodiaphyseal dysplasia

scientific article published in January 1975

Cri-du-chat and trisomy 13 syndromes in an infant with an unbalanced chromosomal translocation

scientific article published on 01 January 1975

David William Hollister, M.D. (1941–91): In memoriam

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes

scientific article published in April 1991

Desbuquois syndrome: clinical, radiographic, and morphologic characterization

scientific article published on 01 August 1994

Diabetes Mellitus: The Search for Genetic Markers ⬇️

scientific article published on March 1, 1979

Diagnosis of skeletal dysplasias in second trimester fetuses

scientific article published on January 1, 1975

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1

scientific article published on 01 October 2007

Diastrophic dysplasia: evidence against a defect of type II collagen

scientific article published in January 1989

Diastrophic dysplasia: the death of a variant

scientific article published in July 1981

Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate

scientific article published on August 1, 1979

Difficulties in the classification of the epiphyseal dysplasias

scientific article published on 01 January 1975

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred ⬇️

scientific article published on August 6, 1998

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]

scientific article

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

scientific article

Dominant inheritance of cerebral gigantism

scientific article published on August 1, 1977

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

scientific article

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

scientific article published in November 2001

Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder

scientific article published on January 11, 1979

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.

scientific article published in December 2007

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series

scientific article

Dysosteosclerosis

scientific article published on 01 January 1975

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity

scientific article

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII ⬇️

scientific article published on March 14, 2012

Echocardiographic findings in patients with spontaneous CSF leak

scientific article published on 25 July 2014

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

scientific article published on 27 June 2012

Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree ⬇️

scientific article published on March 15, 2011

Endochondral ossification in achondroplastic dwarfism

Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis

scientific article published in January 1996

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis

scientific article published on 01 August 2008

Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12

scientific article

Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

scientific article published on 01 August 2000

Exome sequencing identifies PDE4D mutations in acrodysostosis

scientific article published on 29 March 2012

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia

scientific article published in December 1994

Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type ⬇️

scientific article published on October 1, 1998

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

scientific article published on 5 August 2014

Familial frontal dysplasia

scientific article published on January 1, 1975

Familial hypophosphatemic rickets with resolution in childhood

scientific article published on January 1, 1975

Female external genitalia on fetal magnetic resonance imaging

scientific article published on 28 February 2011

Fetal akinesia and associated abnormalities on prenatal MRI

scientific article published on 04 March 2011

Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability

scientific article published on 01 November 1993

Fibrochondrogenesis: radiologic and histologic studies

scientific article

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

scientific article published on 27 June 2012

Further heterogeneity within lethal neonatal short-limbed dwarfism: The platyspondylic types ⬇️

scientific article published on May 1, 1979

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

scientific article

Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea

scientific article published on 01 August 1990

Genetic Aspects of Clinical Endocrinology

scientific article

Genetic Heterogeneity of Hyperpepsinogenemic I and Normopepsinogenemic I Duodenal Ulcer Disease

scientific article published on 01 September 1979

Genetic heterogeneity in common disease

scientific article published on 01 January 1982

Genetic heterogeneity in diabetes mellitus and diabetic microangiopathy

scientific article published on 01 January 1981

Genetic heterogeneity in peptic ulcer ⬇️

scientific article published on May 19, 1979

Genetic homogeneity of cartilage-hair hypoplasia

scientific article published on 01 February 1995

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

scientific article

Genetic screening in the Persian Jewish community: A pilot study

scientific article published on October 2010

Genetic skeletal dysplasia in Thailand: the Siriraj experience.

scientific article published in January 1995

Genetics of diabetes

scientific article published on September 1983

Genetics, diabetes mellitus heterogeneity, and coronary heart disease.

scientific article published on January 1984

Gracile bone dysplasia

scientific article published in January 1998

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism

scientific article published on January 1, 1977

Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia

scientific article published in April 1982

Growth curves in achondroplasia

scientific article published on 01 January 1977

Growth hormone in African pygmies

scientific article published in The Lancet

Growth hormone in African pygmies

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

scientific article

HLA genotypic study of insulin-dependent diabetes the excess of DR3/DR4 heterozygotes allows rejection of the recessive hypothesis

scientific article published on February 1983

HLA-B5 associated with duodenal ulcer

scientific article published on 01 September 1977

Hand involvement in Schmid metaphyseal chondrodysplasia

scientific article published on 01 January 2005

Hearing loss and temporal bone structure in achondroplasia

scientific article published in March 1993

Heterogeneity in Diabetes Mellitus—Update, 1978: Evidence for Further Genetic Heterogeneity within Juvenile-onset Insulin-dependent Diabetes Mellitus ⬇️

scientific article published on May 1, 1978

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

scientific article published on September 1976

Heterogeneity in the campomelic syndromes: long and short bone varieties

scientific article published on 01 January 1976

Heterogeneity of nonlethal severe short-limbed dwarfism

scientific article published on December 1, 1977

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

scientific article

Hip arthrography in the epiphyseal dysplasias.

scientific article published in January 1974

Histochemical characterization of the endochondral growth plate: a new approach to the study of the chondrodystrophies

scientific article published on January 1, 1978

Histologic and ultrastructural studies on the mineralization process in hypophosphatasia

Histologic heterogeneity in the hyperostotic bone dysplasias

scientific article published on January 1, 1976

Histologic studies in the chondrodystrophies

scientific article published in January 1974

Human Variome Project country nodes: documenting genetic information within a country

scientific article published on 18 July 2012

Human long bone development in vivo: analysis of the distal femoral epimetaphysis on MR images of fetuses.

scientific article published on 07 February 2013

Humeroradial ankylosis associated with other congenital defects (the "boomerang arm" sign)

scientific article published on January 1, 1975

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder

scientific article

Incorporation of Structurally Defective Type II Collagen into Cartilage Matrix in Kniest Chondrodysplasia ⬇️

scientific article published on July 15, 1998

Inheritance of diabetes mellitus

scientific article

Inheritance of immunoglobulin light-chain genes in pairs of siblings with insulin-dependent diabetes mellitus ⬇️

scientific article published on May 19, 1984

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

Isolated human growth hormone deficiency. III. Insulin secretion in sexual ateliotic dwarfism ⬇️

scientific article published on 01 November 1968

Isolated human growth hormone deficiency. IV. The response of sexual ateliotic dwarfs to exogenous growth hormone

scientific article published on 01 November 1968

Kniest Dysplasia. A Histochemical Study of the Growth Plate

scientific article published on November 1, 1979

Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly

scientific article published on February 1988

Kniest dysplasia: a probable type II collagen defect

scientific article published on 01 January 1988

Lacrimo-auriculo-dento-digital (LADD) syndrome

scientific article

Lactation in the Absence of Human Growth Hormone1 ⬇️

scientific article published on 01 August 1968

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)

scientific article published on 01 February 1984

Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration ⬇️

scientific article published on April 28, 1998

Letter to the editor: histochemical studies in diastrophic dwarfism.

scientific article

Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 ⬇️

scientific article published on July 1, 1998

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

scientific article

MR imaging of the fetal musculoskeletal system ⬇️

scientific article published on March 1, 2012

Maimon M. Cohen: January 24, 1935, to January 25, 2007.

scientific article published in May 2007

Male genital abnormalities in intrauterine growth restriction ⬇️

scientific article published on April 11, 2012

Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging

scientific article published on 17 February 2011

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

scientific article

Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling ⬇️

scientific article published on October 1, 1998

Mesomelic skeletal dysplasias

scientific article published on January 1, 1976

Metabolic effects of human growth hormone in the African pygmy

scientific article published in The Lancet

Metabolic studies in the African pygmy.

scientific article

Metachondromatosis

scientific article published on 01 January 1974

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

scientific article published on January 1988

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias

scientific article published on January 1, 1976

Microcephalic osteodysplastic dysplasia

scientific article published on July 1994

Micromelic bone dysplasia with cloverleaf skull

scientific article published in January 1989

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia ⬇️

scientific article published on July 7, 1998

Molecular-pathogenetic classification of genetic disorders of the skeleton

scientific article

Morphologic studies in the skeletal dysplasias ⬇️

scientific article published on September 1, 1979

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia

scientific article published in July 2008

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

scientific article published on 01 January 2001

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature

scientific article published in February 1996

Mutation (variation) databases and registries: a rationale for coordination of efforts

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia

scientific article published on June 1996

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

scientific article

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

scientific article published on 29 February 2004

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

scientific article

Mutations in two regions of FLNB result in atelosteogenesis I and III.

scientific article published in July 2006

Neonatal dwarfism

scientific article published on August 1, 1978

Nephronophthisis associated with Ellis-van Creveld syndrome ⬇️

scientific article published on January 1, 1998

Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism

scientific article published on 3 February 2015

New epiphyseal stippling syndrome with osteoclastic hyperplasia

scientific article

New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin

scientific article published on 01 June 1993

New mesomelic dysplasia with absent fibulae and triangular tibiae.

scientific article published in September 2000

New perspectives in the human chondrodysplasias

scientific article published on 01 January 1988

Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia ⬇️

scientific article published on 01 July 1975

Normal sonographic appearance of a thanatophoric dwarf variant fetus at 13 weeks gestation

scientific article

Nosology and classification of genetic skeletal disorders: 2010 revision.

scientific article

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

scientific journal article

Occipital projections in the skeletal dysplasias

scientific article published on 24 April 2004

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia

scientific article published on 01 February 1989

Orthopaedic manifestations of Marinesco-Sjögren syndrome

scientific article published in May 2002

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology

scientific article

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

scientific article published on 01 February 1984

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

scientific article published on 01 March 1986

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia

scientific article

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology

scientific article published on November 2000

Ovarian cysts on prenatal MRI.

scientific article published on 18 May 2011

Pachydermoperiostosis: an update

scientific article

Pacman dysplasia: Report of two affected sibs ⬇️

scientific article published on May 26, 1998

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features ⬇️

scientific article (publication date: April 2003)

Pathological fractures in spondyloenchondrodysplasia: case report

scientific article published on 01 February 2000

Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1

scientific article

Penile biometry on prenatal magnetic resonance imaging

scientific article published in March 2012

Peptic Ulcer Disease-A Heterogeneous Group of Disorders? ⬇️

scientific article published on September 1, 1977

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings ⬇️

scientific article published on January 1, 1991

Peripheral Subresponsiveness to Human Growth Hormone in the African Pygmies ⬇️

scientific article

Plasma growth hormone after arginine infusion. Clinical experiences

scientific article published on 01 February 1967

Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

scientific article published on 01 July 1990

Postmortem findings in the Hurler-Scheie syndrome (mucopolysaccharidosis I-H/S).

scientific article published in January 1982

Prenatal cortical hyperostosis (Caffey disease)

scientific article published on 01 September 2002

Prenatal diagnosis of asphyxiating thoracic dysplasia

scientific article published in June 1984

Prenatal diagnosis of osteogenesis imperfecta type III

scientific article published on 01 January 1987

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

scientific article published on 01 April 1999

Prenatal diagnosis of the skeletal dysplasias

scientific article published in September 1993

Progeroid syndrome

scientific article published on 01 January 1975

Progress in understanding the genetics of diabetes mellitus.

scientific article

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production

scientific article

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

scientific article

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia

scientific article published in October 1986

Quantitative histology of cartilage cell columns in the human costochondral junction: findings in newborn and pediatric subjects

scientific article published in February 1989

Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis

scientific article published on December 1990

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.

scientific article published in November 1998

Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia] ⬇️

scientific article published on July 2, 2011

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

scientific article published in January 2012

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder ⬇️

scientific article published on April 30, 2013

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

scientific article published on December 2011

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

scientific article

Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases

scientific article published in December 2000

Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type

scientific article published on July 2000

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

scientific article (publication date: 2 July 1999)

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

scientific article published in January 2010

Sexual ateliotic dwarfism: a recessively inherited isolated deficiency of growth hormone

scientific article published on 01 January 1966

Short stature. Part I ⬇️

scientific article published on April 1, 1978

Short stature. Part II ⬇️

scientific article published on May 1, 1978

Situs anomalies on prenatal MRI

scientific article published on 28 June 2011

Skeletal dysplasias

scientific article published on 01 January 2004

Skeletal dysplasias

Small deletions in the type II collagen triple helix produce Kniest dysplasia

article

Small deletions in the type II collagen triple helix produce kniest dysplasia

scientific article (publication date: 16 July 1999)

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings

scientific article

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

scientific article published in July 2005

Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia ⬇️

scientific article published on October 1, 1997

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology

scientific article

Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia

scientific article published on 01 September 1982

Spondylometaphyseal dysplasia, Sedaghatian type

scientific article published on 01 November 1992

Spondylometepiphyseal dysplasia, Strudwick type

scientific article published on 01 November 1982

Standard growth curves for achondroplasia

scientific article published in September 1978

Structurally Abnormal Type II Collagen in a Severe Form of Kniest Dysplasia Caused by an Exon 24 Skipping Mutation ⬇️

scientific article published on February 20, 1998

Sulfate transport in chondrodysplasia

scientific article published on June 1996

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

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

scientific article

Thanatophoric dwarfism

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

scientific article published in March 1995

The American College of Medical Genetics, the first 20 years

scientific article published on March 2011

The Dyggve-Melchior-Clausen syndrome

scientific article published on 01 February 1971

The Erlenmeyer flask bone deformity in the skeletal dysplasias

scientific article

The Floating-Harbor syndrome

scientific article

The Kniest syndrome ⬇️

scientific article published on April 1, 1975

The Kniest syndrome.

scientific article

The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

scientific article published on 7 November 2012

The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies

scientific article published on October 1975

The Pointer syndrome: a new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

scientific article published on 01 January 1997

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

scientific article

The Turner phenotype associated with unbalanced X/autosome translocation

scientific article published on 01 January 1975

The Winchester syndrome: a nonlysosomal connective tissue disease

scientific article published on 01 May 1974

The Winchester syndrome: clinical, radiographic and pathologic studies

scientific article published on 01 January 1974

The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency

scientific article published on November 1, 1976

The facial-digital-genital (Aarskog) syndrome

scientific article

The genetic syndromology of peptic ulcer ⬇️

scientific article published on 01 January 1981

The genetics of diabetes

scientific article published on 01 May 1987

The genetics of the glucose intolerance disorders

scientific article published on 01 January 1981

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

scientific article

The lacrimo-auriculo-dento-digital syndrome

scientific article published on 01 September 1973

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

scientific article

The mouse skeletal mutants: models for the human skeletal dysplasias

scientific article published in January 1985

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

scientific article published on 09 September 2005

The phenotypic variability of diastrophic dysplasia

scientific article published in October 1978

The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia

scientific article published in August 1985

The scapula as a window to the diagnosis of skeletal dysplasias.

scientific article published on May 1997

The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity

scientific article

The skeletal dysplasias

scientific article

The skeletal dysplasias

scientific article published on 01 June 2010

The skeletal dysplasias: clinical-molecular correlations

scientific article

The skeleton and musculature on foetal MRI ⬇️

scientific article published on February 19, 2011

The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation

scientific article published on March 1, 1979

Transient monoparesis after blade plate removal in a Hutchinson-Gilford progeria syndrome patient: a case report

scientific article

Tumor disease and associated congenital abnormalities on prenatal MRI

scientific article published on 12 February 2011

Type C brachydactyly with limited flexion of distal interphalangeal joints

scientific article published on January 1, 1974

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

scientific article

Ultrastructural abnormalities in bone and calcifying cartilage in two siblings with a newly described recessive lethal chondrodysplasia

scientific article published in July 1990

Ultrastructure of cartilage in the Hurler and Sanfilippo syndromes.

scientific article

Unusual congenital anomalies

scientific article published on January 1, 1975

Unusual connective tissue disorder

scientific article published on 01 January 1975

Unusual metaphyseal chondrodysplasia with wrist deformities

scientific article published on 01 January 1975

Unusual skeletal anomalies

scientific article published on January 1, 1975

Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias

scientific article (publication date: May 2003)

Variable expression of the Holt-Oram syndrome

scientific article published on 01 January 1974

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A ⬇️

scientific article published on October 3, 2012

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature ⬇️

scientific article published on July 7, 2012

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

scientific article published on 31 October 2013

Workshop on genetics of diabetes

scientific article published on 01 January 1982

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

scientific article

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