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Genetic homogeneity of Cartilage-hair hypoplasia

Sulisalo, T.
Burgt, I. van der
Rimoin, D.L.
Bonaventure, J.
Sillence, D.
Campbell, J.B.
Chitayat, D.
Scott, C.I.
Chapella, A. de la
Sistonen, P.
Kaitila, I.

Publication date

January 1995

DOI

10.1007/bf00209394

ISSN

0340-6717

Abstract

Contains fulltext : 22098___.PDF (publisher's version ) (Open Access

Extracted data

Topics

thumbnail of dbpedia resource

PDFMusic genre

Related items

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

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Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this stud...

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

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Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability

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A porc-haj hypoplasia ritka, autoszomális recesszív öröklődésmenetű primer immunhiány-betegség, amel...

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Contains fulltext : 24961___.PDF (publisher's version ) (Open Access

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Nakashima, E.
Tran, J.R.
Welting, T.J.M.
Pruijn, G.J.M.
Hirose, Y.
Nishimura, G.
Ohashi, H.
Schurman, S.H.
Cheng, J.
Candotti, F.
Nagaraja, R.
Ikegawa, S.
Schlessinger, D.

January 2007

Contains fulltext : 35019.pdf (publisher's version ) (Closed access

Porc-haj hypoplasia = Cartilage-hair hypoplasia

Erdős, Melinda
Tóth, Beáta
Almássy, Zsuzsanna
Tímár, László
Maródi, László

February 2028

A porc-haj hypoplasia ritka, autoszomális recesszív öröklődésmenetű primer immunhiány-betegség, amel...

Novel Mutation in Boy With Cartilage-hair Hypoplasia

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Yu, Hong-Ren
Lin, Ying-Jui
Wang, Tzu-Jou

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Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings

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Ciancia S.
Bertucci E.
Lucaccioni L.
Calabrese O.
Madeo S.
Berardi A.
Iughetti L.

January 2021

Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplas...

ORIGINAL CLINICAL ARTICLE Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

Patrick Riley
Jr. Dennis
S. Weiner
Bonnie Leighley
David Jonah
D. Holmes
Morton Kevin
A. Strauss
Michael B. Bober
Martin S. Dicintio

August 2016

Purpose Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by shor...

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Bonafe, Luisa
Dermitzakis, Emmanouil
Unger, Sheila
Greenberg, C. R.
Campos-Xavier, B. A.
Zankl, Andreas
Ucla, Catherine
Antonarakis, Stylianos
Superti-Furga, Andrea
Reymond, Alexandre

January 2005

Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP g...

Cartilage-hair hypoplasia (CHH)

Hermanns, P
Lee, B

January 2008

Review on Cartilage-hair hypoplasia (CHH), with data on clinics, and the genes involved

Evolutionary Comparison Provides Evidence for Pathogenicity of <em>RMRP</em> Mutations

Luisa Bonafé (60182)
Emmanouil T Dermitzakis (41446)
Sheila Unger (60183)
Cheryl R Greenberg (60184)
Belinda A Campos-Xavier (60185)
Andreas Zankl (60186)
Catherine Ucla (60187)
Stylianos E Antonarakis (60188)
Andrea Superti-Furga (60189)
Alexandre Reymond (11328)

January 2013

<div><p>Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in th...

Cartilage hair hypoplasia

D. C. Siggers
B. Morris
J. M. Tanner
I. C. S. Normand
D. A. J. Williamson

October 2016

Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation ...

PORCN mutations in focal dermal hypoplasia: coping with lethality.

January 2009

Contains fulltext : 81709.pdf (publisher's version ) (Closed access)The X-linked d...

Cartilage hair hypoplasia and the RMRP gene

Hermanns, Pia

January 2005

Introduction: Brief overview of Bone Development Disorders of the Skeleton Cartilage-Hair-Hypoplasia...

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Kobra Shiasi Arani

January 2015

Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this stud...

Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.

Zwaag, B. van der
Burbach, J.P.H.
Scharfe, C.
Oefner, P.J.
Brunner, H.G.
Padberg, G.W.A.M.
Bokhoven, J.H.L.M. van

January 2005

Contains fulltext : 47570.pdf (publisher's version ) (Closed access)Hereditary con...

Identification of novel and recurrent RMRP variants in a series of Brazilian patients with cartilage-hair hypoplasia: McKusick syndrome

Gomes, Maria E.
Calatrava Paternostro, Luiza
Moura, Valeria R.
Antunes, Deborah
Caffarena, Ernesto R.
Horovitz, Dafne
Sanseverino, Maria T.
Ferraz Leal, Gabriela
Felix, Temis M.
Pontes Cavalcanti, Denise
Clinton Llerena, Juan Jr.
Gonzalez, Sayonara

April 2020

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic var...