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BRACHYDACTYLY, TYPE A1 (disorder)
Known as:
BDA1
, Brachydactyly type A1
, Brachydactyly, Type A1
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National Institutes of Health
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Related topics
Related topics
7 relations
Autosomal dominant inheritance
Genetic Heterogeneity
IHH, 3-BP DEL, 283GAG
IHH, GLU131LYS
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Broader (1)
Brachydactyly
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Brachydactyly‐anonychia with congenital absent phalanges of the hand
Raman Sharma
,
J. John
,
R. Sharma
ANZ journal of surgery
2020
Corpus ID: 211158196
Edwards JG. Unifying classification for transdiaphragmatic intercostal hernia and other costal margin injuries. Eur. J…
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2020
2020
A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
Mohan Liu
,
Xueguang Zhang
,
Hongqian Liu
,
Ying Shen
Molecular Genetics & Genomic Medicine
2020
Corpus ID: 220060891
Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which…
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2020
2020
[Clinical practice guidelines for brachydactyly type A1].
Writing Group For Practice Guidelines For Diagnosi
,
Gang Ma
,
+4 authors
Lin He
Zhonghua yi xue yi chuan xue za zhi = Zhonghua…
2020
Corpus ID: 212407492
Brachydactyly type A1 (BDA1) is the first autosomal dominant genetic disease recorded in the literature. The main characteristics…
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2016
2016
Ihh and PTH1R signaling in limb mesenchyme is required for proper segmentation and subsequent formation and growth of digit bones.
K. Amano
,
Michael J. Densmore
,
Yi Fan
,
B. Lanske
Bone
2016
Corpus ID: 3702393
2012
2012
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.
C. Palka
,
I. Antonucci
,
+6 authors
L. Stuppia
Clinical Dysmorphology
2012
Corpus ID: 37073554
Departments of Pediatrics, Oral Sciences, Nano and Biotechnology, G. d’Annunzio University, Chieti and Medical Genetic Unit…
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2009
2009
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
Eva-Lena Stattin
,
B. Lindén
,
T. Lönnerholm
,
J. Schuster
,
N. Dahl
European Journal of Medical Genetics
2009
Corpus ID: 23440840
2009
2009
Clinical and Genetic Studies of Three Inherited Skeletal Disorders
Eva-Lena Stattin
2009
Corpus ID: 8914953
Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and…
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Review
1987
Review
1987
Effects of the Jamison-Farabee consent decree: due process protection for involuntary psychiatric patients treated with psychoactive medication.
W. Hargreaves
,
M. Shumway
,
E. Knutsen
,
A. Weinstein
,
N. Senter
American Journal of Psychiatry
1987
Corpus ID: 43750302
The Jamison-Farabee consent decree in California mandates an outside psychiatrist's review of involuntary medication of state…
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1987
1987
Quintal Index : Another Criterion for Brachydactyly V
T. Ikeda
1987
Corpus ID: 156648384
1963
1963
FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.
D. Haws
,
Mckusick Va
Bulletin of the Johns Hopkins Hospital
1963
Corpus ID: 28771871
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