List of works - Judith Goslin Hall

Achondroplasia

scientific article published in The Lancet

Twinning

scientific article

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

scientific article

Genomic imprinting: review and relevance to human diseases.

scientific article

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

scientific article

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

scientific article published in January 1982

Noonan syndrome: the changing phenotype

scientific article published in July 1985

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

scientific article

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

scientific article

Arthrogryposis Multiplex Congenita

1997 scientific article

International nosology and classification of constitutional disorders of bone (2001).

scientific article published in November 2002

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

scientific article published on 01 February 1984

X-Linked Cutis Laxa

article

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

scientific article

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

scientific article published on April 3, 2014

THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

article published in 1969

Klinefelter syndrome: expanding the phenotype and identifying new research directions

scientific article published in November 2003

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings

scientific article published in September 2004

Health supervision for children with achondroplasia

scientific article

Standard growth curves for achondroplasia

scientific article published in September 1978

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

scientific article published on 18 November 2013

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

A pattern of craniofacial and limb defects secondary to aberrant tissue bands

scientific article published on 01 January 1974

Limb pterygium syndromes: a review and report of eleven patients.

scientific article published on August 1982

Folic acid for the prevention of congenital anomalies

scientific article

Client-centred assessment and the identification of meaningful treatment goals for individuals with a spinal cord injury

scientific article published on May 2004

A meeting of minds: interdisciplinary research in the health sciences in Canada.

scientific article

Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective

scientific article

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

scientific article published on August 2009

Achondroplasia--a genetic and statistical survey

scientific article published in January 1970

Multiple congenital anomalies associated with oral anticoagulants

article

Noonan phenotype associated with neurofibromatosis

scientific article published on 01 July 1985

Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

scientific article published in January 1980

The frequency and financial burden of genetic disease in a pediatric hospital

scientific article published on January 1, 1978

Thanatophoric dysplasia and cloverleaf skull

scientific article published on January 1987

Possible maternal effect on severity of neurofibromatosis

scientific article published on November 18, 1978

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations

article

Gonadal mosaicism in pseudoachondroplasia.

scientific article published on September 1987

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

scientific article published on 3 July 2013

Prenatal Diagnosis of Congenital Bullous Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis) by Fetal Skin Biopsy

The lethal multiple pterygium syndromes

Molecular nosology of heritable disorders of connective tissue.

scientific article published in February 1992

Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length

scientific article published on 01 March 1981

CATCH 22.

scientific article published on October 1993

DIASTROPHIC DWARFISM

scientific article published on 01 January 1972

Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension

scientific article published on 01 July 1989

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

scientific article

Twins and twinning

scientific article published on 01 January 1996

Elements of morphology: standard terminology for the nose and philtrum

scientific article published in January 2009

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes

scientific article published on January 1, 1979

List of works by Judith Goslin Hall

Achondroplasia

Twinning

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Genomic imprinting: review and relevance to human diseases.

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

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

Noonan syndrome: the changing phenotype

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Arthrogryposis Multiplex Congenita

International nosology and classification of constitutional disorders of bone (2001).

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

X-Linked Cutis Laxa

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

Klinefelter syndrome: expanding the phenotype and identifying new research directions

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings

Health supervision for children with achondroplasia

Standard growth curves for achondroplasia

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Recommendations of the 2006 Human Variome Project meeting

A pattern of craniofacial and limb defects secondary to aberrant tissue bands

Limb pterygium syndromes: a review and report of eleven patients.

Folic acid for the prevention of congenital anomalies

Client-centred assessment and the identification of meaningful treatment goals for individuals with a spinal cord injury

A meeting of minds: interdisciplinary research in the health sciences in Canada.

Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

Achondroplasia--a genetic and statistical survey

Multiple congenital anomalies associated with oral anticoagulants

Noonan phenotype associated with neurofibromatosis

Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

The frequency and financial burden of genetic disease in a pediatric hospital

Thanatophoric dysplasia and cloverleaf skull

Possible maternal effect on severity of neurofibromatosis

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations

Gonadal mosaicism in pseudoachondroplasia.

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

Prenatal Diagnosis of Congenital Bullous Ichthyosiform Erythroderma (Epidermolytic Hyperkeratosis) by Fetal Skin Biopsy

The lethal multiple pterygium syndromes

Molecular nosology of heritable disorders of connective tissue.

Short-limbed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length

CATCH 22.

DIASTROPHIC DWARFISM

Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

Twins and twinning

Elements of morphology: standard terminology for the nose and philtrum

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes