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Brachyolmia
National Institutes of Health
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Related topics
Related topics
2 relations
Brachyolmia Type 3
Broader (1)
Osteochondrodysplasias
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
M. Huckert
,
C. Stoetzel
,
+33 authors
A. Bloch-Zupan
Human molecular genetics
2015
Corpus ID: 14405869
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four…
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2013
2013
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
A. Iida
,
P. Ö. Şimşek-Kiper
,
+14 authors
S. Ikegawa
Human mutation
2013
Corpus ID: 26059603
Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long‐bone…
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2012
2012
PAPSS2 mutations cause autosomal recessive brachyolmia
N. Miyake
,
N. Elçioğlu
,
+12 authors
S. Ikegawa
Journal of Medical Genetics
2012
Corpus ID: 206997314
Background Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic…
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2011
2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
E. Andreucci
,
S. Aftimos
,
+13 authors
R. Savarirayan
Orphanet journal of rare diseases
2011
Corpus ID: 9680819
BackgroundThe TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and…
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Highly Cited
2010
Highly Cited
2010
Wild-type and Brachyolmia-causing Mutant TRPV4 Channels Respond Directly to Stretch Force*
S. Loukin
,
Xinliang Zhou
,
Zhenwei Su
,
Y. Saimi
,
C. Kung
The Journal of Biological Chemistry
2010
Corpus ID: 27128410
Whether animal ion channels functioning as mechanosensors are directly activated by stretch force or indirectly by ligands…
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Highly Cited
2008
Highly Cited
2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
M. J. Rock
,
J. Prenen
,
+16 authors
D. Cohn
Nature Genetics
2008
Corpus ID: 575732
The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short…
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2003
2003
Two sibs with brachyolmia type Hobaek: Five year follow‐up through puberty
J. Hoo
,
M. Oliphant
American journal of medical genetics. Part A
2003
Corpus ID: 42804363
A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with…
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1994
1994
Brachyolmia: an autosomal dominant form.
J. Gardner
,
P. Beighton
American journal of medical genetics
1994
Corpus ID: 23469240
We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis…
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1991
1991
Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion
A. Sewell
,
C. Wern
,
B. Pontz
Clinical genetics
1991
Corpus ID: 44616353
A 15‐year‐old girl is described with brachyolmia. She presented with short‐trunked dwarfism, hypolordosis of the lower spine and…
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1973
1973
Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).
P. A. Mour ao
,
S. Toledo
,
H. Nader
,
C. Dietrich
Biochemical medicine
1973
Corpus ID: 41077234
Abstract The urinary mucopolysaccharides excreted by four siblings with generalized platyspondyly (brachyolmia) were analyzed by…
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