Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

Faculty Opinions recommendation of Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.733645989.793573464 ◽

2020 ◽

Author(s):

Michael Briggs

Keyword(s):

Mouse Model ◽

Disease Severity ◽

Stop Codon ◽

Premature Stop Codon ◽

Col10a1 Gene

Jansen's Metaphyseal Chondrodysplasia

Encyclopedia of Molecular Mechanisms of Disease ◽

10.1007/978-3-540-29676-8_986 ◽

2009 ◽

pp. 1096-1097

Author(s):

Iris Bartels ◽

Frank Beier ◽

Peter L. M. Jansen ◽

...

Keyword(s):

A new form of metaphyseal chondrodysplasia in two sibs: Surgical treatment of tracheobronchial malacia and scoliosis

American Journal of Medical Genetics ◽

10.1002/ajmg.1320110406 ◽

1982 ◽

Vol 11 (4) ◽

pp. 415-424 ◽

Cited By ~ 6

Author(s):

I. I. Kaitila ◽

P. Halttunen ◽

O. Snellman ◽

O. Takkunen ◽

John M. Opitz

Keyword(s):

Surgical Treatment ◽

New Form

Schmid Metaphyseal Chondrodysplasia

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-4614-6430-3_211-2 ◽

2016 ◽

pp. 1-6

Author(s):

Harold Chen

Keyword(s):

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: Description of seven patients and review of the literature

American Journal of Medical Genetics ◽

10.1002/ajmg.1320410320 ◽

1991 ◽

Vol 41 (3) ◽

pp. 371-380 ◽

Cited By ~ 28

Author(s):

Ineke Van Der Burgt ◽

Asgeir Haraldsson ◽

Jan C. Oosterwijk ◽

Anthonie J. van Essen ◽

Corry Weemaes ◽

...

Keyword(s):

Review Of The Literature ◽

Cartilage Hair Hypoplasia

Metaphyseal chondrodysplasia, Schmid type. A defect of ultrastructural metabolism

The Journal of Bone and Joint Surgery (American) ◽

10.2106/00004623-198062040-00023 ◽

1980 ◽

Vol 62 (4) ◽

pp. 660-663 ◽

Cited By ~ 12

Author(s):

M J Wasylenko ◽

J H Wedge ◽

C S Houston

Keyword(s):

Type A ◽

A Case of Metaphyseal Chondrodysplasia

The Journal of the Korean Orthopaedic Association ◽

10.4055/jkoa.1980.15.4.851 ◽

1980 ◽

Vol 15 (4) ◽

pp. 851

Author(s):

Choon Ki Lee ◽

Se Il Suk ◽

Jang Suk Choi

Keyword(s):

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

Clinical Pediatric Endocrinology ◽

10.1297/cpe.25.107 ◽

2016 ◽

Vol 25 (3) ◽

pp. 107-110 ◽

Cited By ~ 7

Author(s):

Shinji Higuchi ◽

Masaki Takagi ◽

Satoshi Shimomura ◽

Gen Nishimura ◽

Yukihiro Hasegawa

Keyword(s):

Novel Mutation ◽

Familial Case ◽

Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.61494 ◽

2020 ◽

Vol 182 (4) ◽

pp. 768-772

Author(s):

Michael T. Gabbett ◽

Cassandra J. Jeavons ◽

Peter H. Gray

Keyword(s):

Severe Hypertension ◽

Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): Second report in a Mexican patient

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.32082 ◽

2008 ◽

Vol 146A (4) ◽

pp. 479-483

Author(s):

L.E. Becerra-Solano ◽

G. Castañeda-Cisneros ◽

R. Bañuelos-Acosta ◽

J. Sánchez-Corona ◽

J.E. García-Ortiz

Keyword(s):

Upper Limb ◽

Normal Height ◽

Mesomelic Dysplasia ◽

Mexican Patient