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Phocomelia
Known as:
Phocomelia of unspecified limb
A congenital malformation in which the upper portion of a limb is either shortened or absent.
National Institutes of Health
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Related topics
Related topics
12 relations
Amelia
Clinical Data Interchange Standards Consortium Terminology
Congenital absence
Congenital musculoskeletal anomalies
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Broader (3)
Congenital Abnormality
Fetal Diseases
Musculoskeletal Diseases
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Thalidomide‐induced teratogenesis: History and mechanisms
N. Vargesson
Birth Defects Research Part C Embryo Today…
2015
Corpus ID: 9438
Nearly 60 years ago thalidomide was prescribed to treat morning sickness in pregnant women. What followed was the biggest man…
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Review
2011
Review
2011
Congenital upper limb deficiencies and associated malformations in Finland: a population-based study.
E. Koskimies
,
N. Lindfors
,
M. Gissler
,
J. Peltonen
,
Y. Nietosvaara
Journal of Hand Surgery-American Volume
2011
Corpus ID: 12486446
Highly Cited
2006
Highly Cited
2006
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
C. Woods
,
S. Stricker
,
+13 authors
S. Mundlos
American Journal of Human Genetics
2006
Corpus ID: 19197054
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation…
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Review
2005
Review
2005
Upper-extremity phocomelia reexamined: a longitudinal dysplasia.
C. Goldfarb
,
P. Manske
,
R. Busa
,
J. Mills
,
P. Carter
,
M. Ezaki
Journal of Bone and Joint Surgery. American…
2005
Corpus ID: 11522843
BACKGROUND In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia…
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Highly Cited
2000
Highly Cited
2000
Hemiplegic cerebral palsy and the factor V Leiden mutation
Heinrich Schmidt
,
S. Uhrig
,
Gaby Lederer
,
J. Murken
,
Michael R. Speicher
,
Simone Schuffenhauer
Journal of Medical Genetics
2000
Corpus ID: 13325236
Editor—TNFα (tumour necrosis factor-alpha) is a cytokine produced by macrophages and monocytes with a wide range of activities…
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Review
1998
Review
1998
Thalidomide and its impact in dermatology.
D. Stirling
Seminars in cutaneous medicine and surgery
1998
Corpus ID: 10690942
Highly Cited
1994
Highly Cited
1994
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)
C. Basson
,
Glenn S. Cowley
,
+5 authors
C. Seidman
New England Journal of Medicine
1994
Corpus ID: 11138070
BACKGROUND The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently…
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Review
1989
Review
1989
Differential expression of genes encoding α, β and γ retinoic acid receptors and CRABP in the developing limbs of the mouse
P. Dollé
,
E. Ruberte
,
+4 authors
P. Chambon
Nature
1989
Corpus ID: 4234376
RETINOIC acid has profound effects on vertebrate limb morphogenesis (refs 1–6, reviewed in refs 7–9), including in the mouse…
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Highly Cited
1989
Highly Cited
1989
Elevations in the endogenous levels of the putative morphogen retinoic acid in embryonic mouse limb-buds associated with limb dysmorphogenesis.
M. Satre
,
D. Kochhar
Developmental Biology
1989
Corpus ID: 11159659
Highly Cited
1970
Highly Cited
1970
Studies on possible mechanisms of programmed cell death in the chick embryo.
D. A. Webster
,
J. Gross
Developmental Biology
1970
Corpus ID: 39675804
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