(Q57751348)

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Amyoplasia revisited

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scholarly article

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Amyoplasia revisited (English)

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Judith Goslin Hall

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Judith G. Hall

1

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author name string

Kimberly A. Aldinger

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Kimi I. Tanaka

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language of work or name

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publication date

23 January 2014

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American Journal of Medical Genetics

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164

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3

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700-730

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Diabetes trends among delivery hospitalizations in the U.S., 1994-2004.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Focal upper extremity neuropathy in neonates

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Use of the Pediatric Outcomes Data Collection Instrument to evaluate functional outcomes in arthrogryposis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Evidence by molecular profiling for a placental origin of infantile hemangioma

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Arthrogryposis and amyoplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Elements of morphology: standard terminology for the hands and feet.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

6-year experience of prenatal diagnosis in an unselected population in Oxford, UK.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Long-term results of forearm shortening and volar radiocarpal capsulotomy for wrist flexion deformity in children with amyoplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Maternal serum screening abnormality in a fetus associated with arthrogryposis multiplex congenita and amyoplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Amyoplasia congenita associated with mongolism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Umbilical cord disruption sequence caused by long cord in two unrelated infants with amyoplasia.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Ambulatory Activity in Youth With Arthrogryposis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Epidemiology of fertility treatment use among U.S. women with liveborn infants, 1997-2004.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Quadricepsplasty in arthrogryposis (amyoplasia): long-term follow-up.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Surgical treatment of scoliosis in a rare disease: arthrogryposis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Successful vaginal delivery in a woman with amyoplasia.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Arthrogryposis Multiplex Congenita

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Don't use the term ?amyoplasia? loosely

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https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

The group of epidermal nevus syndromes Part I. Well defined phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Elements of morphology: general terms for congenital anomalies.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Dizygotic twinning

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Gastroschisis: clinical presentation and associations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Muscle contraction is necessary to maintain joint progenitor cell fate

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Septo-optic dysplasia and associations with amyoplasia and gastroschisis.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

A prospective study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Gastroschisis with Omphalomesenteric Artery Remnant, Colonic Atresia and Arthrogryposis Multiplex Congenita

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Management of knee deformities in children with arthrogryposis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Amyoplasia congenita of the lower extremity: report in a premature baby

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Amyoplasia congenita: case report and review of literature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Cancer incidence among children and adolescents in the United States, 2001-2003.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Amyoplasia congenita-like condition and maternal malathion exposure.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Effect of interpregnancy interval on outcomes of pregnancy after miscarriage: retrospective analysis of hospital episode statistics in Scotland

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

First trimester complications

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Umbilical cord knots and encirclements.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Wisconsin Stillbirth Service Program: II. Analysis of diagnoses and diagnostic categories in the first 1,000 referrals

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

The genesis and significance of digital and palmar band creases: Preliminary report

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

A case of amyoplasia congenita, with pathological report

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Transient neonatal arthrogryposis: a presumed sequel of antenatal hypoxia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Descriptive epidemiology of small-bowel atresia in metropolitan Atlanta

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Monozygotic twinning and structural defects

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Amyoplasia Congenita: (Multiple congenital articular rigidity: Arthrogryposis multiplex congenita).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Frequency of adoption of children and adolescents with learning disabilities

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Bone mineral density and functional measures in patients with arthrogryposis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Pelvic fixation of growing rods: comparison of constructs

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Malformations reported in chorionic villus sampling exposed children: a review and analytic synthesis of the literature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

EMG and needle muscle biopsy studies in arthrogryposis multiplex congenita

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

"At fingers' ends": risk factors and perinatal outcome of pregnancies complicated by digital malformations

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Predicting adverse obstetric outcome after early pregnancy events and complications: a review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Septo-optic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Causes of stillbirth: an analysis of 77 cases.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Tissue-specific expression and regulation of sexually dimorphic genes in mice

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Sex ratio and placentation in twins

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Sequential X chromosome inactivation coupled with cellular differentiation in early mouse embryos

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

Arthrogryposis Multiplex Congenita and Pituitary Ectopia. A Case Report

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36395

21 January 2018

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10.1002/AJMG.A.36395

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