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Lista de obras de Judith Goslin Hall

2004 ASHG Award for Excellence in Human Genetics Education. Introductory speech for Robert J. Gorlin

artículo científico publicado en 2005

50 Years Ago in The Journal of Pediatrics

A METABOLIC AND HORMONAL BASIS FOR CLASSIFYING ATELIOTIC DWARFS

scientific article published in The Lancet

A New Arthrogryposis Syndrome With Facial and Limb Anomalies

A bone is not a bone is not a bone

artículo científico publicado en 1998

A clinician's plea

A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect

artículo científico publicado en 1977

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

artículo científico publicado en 2006

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.

artículo científico publicado en 2013

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils ⬇️

artículo científico publicado el 19 de enero de 1978

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

scientific article published on 01 January 1974

A sibship with Roberts/SC phocomelia syndrome

article

A standardized autopsy protocol for arthrogryposis (multiple congenital contractures)

scientific article published on 02 August 2019

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family

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

artículo científico publicado en 1968

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

artículo científico publicado el 1 de enero de 1979

Abnormalities of corpus callosum in patients with inherited metabolic diseases

artículo científico publicado en 1988

Achondroplasia

artículo científico publicado en 2007

Achondroplasia--a genetic and statistical survey

artículo científico publicado en 1970

Acromesomelic dwarfism: Manifestations in childhood

article

Additional information on familial essential (benign) chorea

Aerodigestive and communicative behaviors in anencephalic and hydranencephalic infants

artículo científico publicado en 2018

Ambulatory Activity in Youth With Arthrogryposis

American Pediatric Society Presidential Address 2002: The Third Third

Amniotic fluid cell mosaicism for presumptive trisomy 20 ⬇️

artículo científico publicado el 1 de febrero de 1978

Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses

article

Amyoplasia revisited

An approach to congenital contractures (arthrogryposis).

artículo científico publicado en 1981

An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome)

artículo científico publicado en 1979

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

Another adult with Meier-Gorlin syndrome - insights into the natural history

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome

article

Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy

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

article

Arthrogryposis Multiplex Congenita

1997 scientific article

Arthrogryposis as a Syndrome: Gene Ontology Analysis

artículo científico publicado en 2016

Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective

artículo científico publicado en 2007

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

artículo científico publicado en 1993

Association between age of onset and parental inheritance in Huntington chorea ⬇️

artículo científico publicado el 1 de octubre de 1983

Autosomal recessive acrocephalosyndactyly revisited

artículo científico publicado en 1980

Background to the 2nd International Symposium on Arthrogryposis

artículo científico

Behavioral pattern profile: A tool for the description of behavior to be used in the genetics clinic

article

Bleeding diathesis in Noonan syndrome: a common association.

artículo científico publicado en 1988

Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins.

artículo científico publicado en 1997

CATCH 22.

artículo científico publicado en 1993

Capillary basement membrane structure: a comparative study of diabetics and sexual ateliotic dwarfs ⬇️

artículo científico publicado el 1 de diciembre de 1970

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care

artículo científico publicado en 2019

Children of Incest: When To Suspect and How To Evaluate?

artículo científico publicado en 1978

Chondrodysplasia punctata and maternal warfarin use during pregnancy

artículo científico publicado en 1975

Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome

artículo científico publicado el 29 de diciembre de 1976

Classification of arthrogryposis

scientific article published on 04 July 2019

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Clinical and radiologic information or photographs.

artículo científico publicado en 2002

Clinical neurogenetics: A survey of the relationship of medical genetics to clinical neurology

artículo científico publicado el 1 de noviembre de 1977

Comments on "Amyoplasia Congenita-Like Condition and Maternal Malathion Exposure": Is all Amyoplasia Amyoplasia?

artículo científico publicado en 1988

Comments on the Neu-Laxova syndrome and CAD complex

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

artículo científico publicado en 2007

Congenital abnormalities in two sibs exposed to valproic acid in utero

Congenital anomalies: an increasingly important cause of mortality and workload in a neonatal intensive care unit.

artículo científico publicado en 1991

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

artículo científico publicado en 1980

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

article

Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction

artículo científico publicado en 1990

Congenital shortness of the costocoracoid ligament

article

Continuing contributions of older academics

artículo científico publicado en 2020

Could acrocallosal syndrome and Greig syndrome affect the same developmental gene?

artículo científico publicado en 1990

Cytogenetic findings in over 2000 amniocenteses.

artículo científico publicado en 1983

DETECTING MATERNAL CELL CONTAMINATION IN PRENATAL DIAGNOSIS

artículo científico publicado en 1989

DIASTROPHIC DWARFISM

artículo científico publicado en 1972

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

artículo científico publicado en 1991

Detection of Y-specific sequences in patients with Turner syndrome

article published in 2002

Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry

artículo científico publicado en 2018

Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper

artículo científico publicado en 2019

Diabetes mellitus and sexual ateliotic dwarfism: a comparative study ⬇️

artículo científico publicado el 1 de junio de 1970

Diastrophic dysplasia: the death of a variant.

artículo científico publicado en 1981

Dominant distal arthrogryposis in a Maori family with marked variability of expression

Dominantly inherited ptosis, strabismus and ectopic pupils

artículo científico publicado en 1976

Don't use the term ?amyoplasia? loosely

Editorial independence for CMAJ: signposts along the road

artículo científico publicado en 2006

Elements of morphology: general terms for congenital anomalies.

artículo científico publicado en 2013

Elements of morphology: standard terminology for the nose and philtrum

artículo científico publicado en 2009

Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly

artículo científico publicado en 1980

Epigenetics is Here to Stay

Epigenetics: What does it mean for paediatric practice?

artículo científico publicado en 2014

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

artículo científico publicado en 1982

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

artículo científico publicado en 2013

Failure to early prenatal diagnosis in classic achondroplasia.

artículo científico publicado en 1979

Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis

artículo científico

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring

artículo científico publicado en 1981

Familial limb deficiency

scientific article published on 01 August 1988

Familial multiple exostoses—no chromosome 8 deletion observed

Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?

artículo científico publicado en 1990

Fellowships and career development in dysmorphology and clinical genetics

artículo científico publicado el 1 de abril de 1992

Festschrift reflection

article

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

artículo científico publicado en 2014

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

scientific article published on 18 July 2019

Fetal cervical hyperextension in arthrogryposis

scientific article published on 26 July 2019

Fetal hypokinesia sequence caused by maternal autoimmune disorder?

Fibrodysplasia ossificans progressiva (myositis ossificans progressiva) treatment with disodium etidronate

artículo científico publicado en 1979

Folic acid for the prevention of congenital anomalies

artículo científico publicado en 1998

GENETICS OF TUBEROUS SCLEROSIS

artículo científico publicado en 1987

Gender and generational influences on the pediatric workforce and practice

artículo científico publicado en 2014

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

scientific article published on 01 August 2019

Genetic Counseling

artículo científico publicado en 1986

Genetics and Classifications.

artículo científico publicado en 2017

Genomic imprinting

artículo científico publicado en 1991

Genomic imprinting and its clinical implications

artículo científico publicado el 19 de marzo de 1992

Genomic imprinting, monozygous twinning, and X inactivation

artículo científico publicado en 1991

Genomic imprinting: Summary of an NICHD conference

Genomic imprinting: review and relevance to human diseases.

artículo científico publicado en 1990

Give the embryo a chance

artículo científico publicado en 1997

Gonadal mosaicism in pseudoachondroplasia.

artículo científico publicado en 1987

Growth curves for height in Noonan syndrome

article by David R. Witt et al published 23 April 2008 in Clinical Genetics

Head growth in achondroplasia: Use of ultrasound studies

article

Health supervision for children with achondroplasia

artículo científico publicado en 2005

How is the progress in genetics relevant to children's health care

artículo científico publicado en 2004

Human diseases and genomic imprinting

artículo científico publicado en 1999

Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension

artículo científico publicado en 1989

INHERITANCE OF TUBEROUS SCLEROSIS

artículo científico publicado en 1979

Importance of Muscle Movement for Normal Craniofacial Development ⬇️

artículo científico publicado el 1 de septiembre de 2010

International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

artículo científico publicado en 1992

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

artículo científico publicado en 2019

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

artículo científico publicado en 2002

Isolated congenital ectopia lentis with autosomal dominant inheritance

artículo científico publicado en 1979

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

artículo científico publicado en 1968

Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.

artículo científico publicado en 1989

Judith G. Hall: a genetic journey

artículo científico

Kaufman syndrome

Klinefelter syndrome: expanding the phenotype and identifying new research directions

artículo científico publicado en 2003

Kyphosis in achondroplasia: Probably preventable

scientific article published on 01 January 1988

Letter to the Editors

Letter: Arterial occlusion in 47,XYY male ⬇️

artículo científico publicado el 2 de agosto de 1975

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

artículo científico publicado en 1982

Localized acalvaria with craniosynostosis

artículo científico publicado en 2008

Long-term follow-up of three individuals with Kabuki syndrome

artículo científico publicado en 2004

Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita

article

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

artículo científico publicado en 2004

Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis.

artículo científico publicado en 1996

Medical Genetics

artículo científico publicado en 1985

Microphallus, Growth Hormone Deficiency, and Hypoglycemia in Russell-Silver Syndrome

artículo científico publicado en 1978

Mild expression of the Pfeiffer syndrome

Molecular nosology of heritable disorders of connective tissue.

artículo científico publicado en 1992

More on marker X chromosomes, mental retardation and macro-orchidism ⬇️

artículo científico publicado el 29 de marzo de 1979

Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports

artículo científico publicado en 2003

Morphogenesis: clinical natural history and imaging information on patients included in reports

scientific article published on 01 February 2003

Mosaicism in pseudoachondroplasia

artículo científico publicado en 1997

Mouse homologues of human hereditary disease.

artículo científico publicado en 1994

Multiple congenital anomalies associated with oral anticoagulants

article

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

artículo científico publicado en 2014

NEURAL TUBE DEFECTS, SEX RATIOS, AND X INACTIVATTON

artículo científico publicado en 1986

Natural history of human chondrodysplasias.

artículo científico publicado en 1988

Neural tube defects in British Columbia

scientific article published in The Lancet

Neurofibromatosis I: Predicting the relation of gene structure to gene function

article

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis

artículo científico publicado en 1983

New palpebral fissure measurements

No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45 XO Turner syndrome

article

Nontraditional inheritance

artículo científico publicado el 1 de abril de 1992

Noonan phenotype associated with neurofibromatosis

artículo científico publicado en 1985

Noonan syndrome: the changing phenotype

artículo científico publicado en 1985

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).

artículo científico publicado en 1986

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

artículo científico publicado en 2015

Obituary: Dr. David L. Rimoin

Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

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

scientific article published on 01 February 1984

Over the years, I hope I've learned a few things to pass along!

artículo científico publicado en 2011

PHACE syndrome: current knowledge, future directions

artículo científico publicado en 2009

Paediatrician Resource Survey: Preliminary results suggest some urgency.

artículo científico publicado en 2001

Pallister-Hall syndrome has gone the way of modern medical genetics

artículo científico publicado en 2014

Part II. Amyoplasia: Twinning in amyoplasia—a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins

artículo científico publicado en 1983

Partial deletion of the short arm of chromosome 3 (3p25----3pter). Further delineation of the clinical phenotype.

artículo científico publicado en 1985

Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells

article published in 1990

Pediatricians beware: The age of ARTs is upon us

artículo científico publicado en 2005

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

artículo científico publicado en 2009

Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet

Poland anomaly—report of an unusual family

article

Policy statement concerning DNA banking and molecular genetic diagnosis. Canadian College of Medical Geneticists

artículo científico publicado el 1 de agosto de 1991

Possible maternal effect on severity of neurofibromatosis ⬇️

artículo científico publicado el 18 de noviembre de 1978

Posterolateral (Bochdalek's) diaphragmatic hernia in sisters

artículo científico publicado el 1 de noviembre de 1979

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

Prenatal diagnosis of chromosomal mosaicism for trisomy D

scientific article published on 01 June 1977

Prenatal diagnosis of genetic osteochondrodysplasias

article

Prenatal genetic diagnosis and elective abortion in women over 35: Utilization and relative impact on the birth prevalence of Down syndrome in Washington State

Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

artículo científico publicado en 2010

Production of Foetal Haemoglobin in Marrow Cultures of Human Adults

artículo científico publicado en 1968

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

article

RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132-135.]

Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100-101.]

Re: Down syndrome and folic acid deficiency

Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215]

article

Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181-190]

Reader response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype

artículo científico publicado en 2019

Recommendations for Diagnosis, Treatment, and Management of Individuals with Turner Syndrome

article

Recommendations of the 2006 Human Variome Project meeting

artículo científico publicado en 2007

Reflections on an academic career

artículo científico publicado en 2017

Report from the workshop on Pallister-Hall syndrome and related phenotypes

artículo científico publicado en 1996

Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry

artículo científico publicado en 2019

Review and hypothesis: syndromes with severe intrauterine growth restriction and very short stature--are they related to the epigenetic mechanism(s) of fetal survival involved in the developmental origins of adult health and disease?

artículo científico publicado en 2010

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

artículo científico publicado en 2015

Risks of anticoagulation during pregnancy

scientific article published on 01 November 1980

Rothmund-Thomson Syndrome With Severe Dwarfism

scientific article published on 01 February 1980

See One, Do One, Teach One

scientific article published on 01 January 1999

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

scientific article published on 01 March 1981

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

artículo científico publicado en 1980

Small structural changes of chromosome 8. Two cases with evidence for deletion

artículo científico publicado en 1977

So you think your mother is always looking over your shoulder?—She may be in your shoulder!

Special section. Syndrome-specific growth charts

scientific article published on 04 October 2012

Standard growth curves for achondroplasia

artículo científico publicado en 1978

Studies of human achondroplasia: Oxidative metabolism in tissue culture cells

article

Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014.

artículo científico publicado en 2015

Summary of the 3rd international symposium on arthrogryposis

artículo científico publicado en 2019

Syndrome of mental retardation and distal arthrogryposis in sibs

artículo científico publicado en 1991

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs

artículo científico publicado en 1990

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients

artículo científico publicado en 1996

THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR)

article published in 1969

Terathanasia, folic acid, and birth defects

artículo científico publicado en 1997

Teratogens associated with congenital contractures in humans and in animals.

artículo científico publicado en 1982

Thanatophoric dysplasia and cloverleaf skull

artículo científico publicado en 1987

The 2p Partial Trisomy Syndrome

scientific article published on 01 December 1977

The Challenge of Developing Career Pathways for Senior Academic Pediatricians

The Clinic Is My Laboratory: Life as a Clinical Geneticist

artículo científico publicado en 2017

The Impact of Birth Defects and Genetic Diseases ⬇️

artículo científico publicado el 1 de noviembre de 1997

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult.

artículo científico publicado en 1975

The SNATIATION reflex.

artículo científico publicado en 1990

The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness ⬇️

artículo científico publicado el 1 de diciembre de 1975

The Summitt syndrome: observations on a third case

artículo científico publicado el 1 de enero de 1979

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

artículo científico publicado en 1982

The early history of Pallister-Hall syndrome-Buried treasure of a sort

artículo científico publicado en 2016

The importance of the fetal origins of adult disease for geneticists.

artículo científico publicado en 2007

The lethal multiple pterygium syndromes

The phenotypic variability of diastrophic dysplasia

artículo científico publicado en 1978

The role of patient advocacy/parent support groups

artículo científico publicado en 2013

The smallest of the small

artículo científico publicado en 2013

Thrombocytopenia with absent radius ⬇️

artículo científico publicado el 1 de enero de 1977

Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis

scientific article published on 01 April 2004

Trajectory of an academic career: the coming of age of academic pediatricians

artículo científico publicado en 2013

Twinning

artículo científico publicado en 2003

Twins and twinning

artículo científico publicado en 1996

U-P- What?

artículo científico publicado en 1999

Using the skills of academic elders.

artículo científico publicado en 2016

Uterine structural anomalies and arthrogryposis-death of an urban legend

Victor A. McKusick, M.D.: A legend in his own time

Victor A. McKusick, M.D.: a clinician's clinician.

artículo científico publicado en 2009

Vitamin A: A newly recognized human teratogen. Harbinger of things to come?

artículo científico publicado en 1984

WARFARIN EMBRYOPATHY

artículo científico publicado en 1979

Warfarin and Fetal Abnormality: Reply

scientific article published in The Lancet

We are failing to identify disorders of fetal movement - why?

When is careless conception a form of child abuse? Lessons from maternal phenylketonuria

scientific article published on 01 January 2000

X-Linked Cutis Laxa

article

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