Literature DB >> 7897625

Cartilage-hair hypoplasia.

O Mäkitie1, T Sulisalo, A de la Chapelle, I Kaitila.   

Abstract

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Mesh：

Year:  1995        PMID： 7897625      PMCID： PMC1050177          DOI： 10.1136/jmg.32.1.39

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  34 in total

1.  Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

Authors:  O Mäkitie
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.

Authors:  V A MCKUSICK; R ELDRIDGE; J A HOSTETLER; U RUANGWIT; J A EGELAND
Journal:  Bull Johns Hopkins Hosp       Date:  1965-05

3.  Immunologic studies of cartilage-hair hypoplasia in the Amish.

Authors:  J E Trojak; S H Polmar; J A Winkelstein; S Hsu; C Francomano; G F Pierce; J J Scillian; A N Gale; V A McKusick
Journal:  Johns Hopkins Med J       Date:  1981-04

4.  Hodgkin's lymphoma in a child with cartilage-hair hypoplasia: case report.

Authors:  M A Roberts; R M Arnold
Journal:  Mil Med       Date:  1984-05       Impact factor: 1.437

5.  High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

Authors:  T Sulisalo; C A Francomano; P Sistonen; J F Maher; V A McKusick; A de la Chapelle; I Kaitila
Journal:  Genomics       Date:  1994-04       Impact factor: 5.736

Review 6.  Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.

Authors:  I van der Burgt; A Haraldsson; J C Oosterwijk; A J van Essen; C Weemaes; B Hamel
Journal:  Am J Med Genet       Date:  1991-12-01

7.  High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

Authors:  T Sulisalo; J Klockars; O Mäkitie; C A Francomano; A de la Chapelle; I Kaitila; P Sistonen
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

8.  Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.

Authors:  J Hästbacka; A de la Chapelle; I Kaitila; P Sistonen; A Weaver; E Lander
Journal:  Nat Genet       Date:  1992-11       Impact factor: 38.330

9.  Magnetic resonance imaging of the brain structures in the posterior fossa in retarded autistic children.

Authors:  T Hashimoto; K Murakawa; M Miyazaki; M Tayama; Y Kuroda
Journal:  Acta Paediatr       Date:  1992-12       Impact factor: 2.299

10.  Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.

Authors:  G Romeo; P Ronchetto; Y Luo; V Barone; M Seri; I Ceccherini; B Pasini; R Bocciardi; M Lerone; H Kääriäinen
Journal:  Nature       Date:  1994-01-27       Impact factor: 49.962
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  13 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.

Authors:  L Yel; S Aggarwal; S Gupta
Journal:  J Clin Immunol       Date:  1999-11       Impact factor: 8.317

3.  Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Authors:  Imane Cherkaoui Jaouad; Fatima Z Laarabi; Siham Chafai Elalaoui; Stanislas Lyonnet; Alexandra Henrion-Caude; Abdelaziz Sefiani
Journal:  Mol Syndromol       Date:  2015-06-11

4.  Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Authors:  Christian T Thiel; Denise Horn; Bernhard Zabel; Arif B Ekici; Kelly Salinas; Erich Gebhart; Franz Rüschendorf; Heinrich Sticht; Jürgen Spranger; Dietmar Müller; Christiane Zweier; Mark E Schmitt; André Reis; Anita Rauch
Journal:  Am J Hum Genet       Date:  2005-09-29       Impact factor: 11.025

5.  Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

Authors:  M Ridanpää; L M Ward; S Rockas; M Särkioja; H Mäkelä; M Susic; F H Glorieux; W G Cole; O Mäkitie
Journal:  J Med Genet       Date:  2003-10       Impact factor: 6.318

Review 6.  The inherited bone marrow failure syndromes.

Authors:  S Deborah Chirnomas; Gary M Kupfer
Journal:  Pediatr Clin North Am       Date:  2013-12       Impact factor: 3.278

7.  The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis.

Authors:  Ti Cai; Jason Aulds; Tina Gill; Michael Cerio; Mark E Schmitt
Journal:  Genetics       Date:  2002-07       Impact factor: 4.562

8.  RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation.

Authors:  Tina Gill; Ti Cai; Jason Aulds; Sara Wierzbicki; Mark E Schmitt
Journal:  Mol Cell Biol       Date:  2004-02       Impact factor: 4.272

9.  Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia.

Authors:  Ethan M Scott; Sharat Chandra; Jinzhu Li; Eric D Robinette; Miraides F Brown; Olivia K Wenger
Journal:  J Clin Immunol       Date:  2020-01-06       Impact factor: 8.317

10.  Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

Authors:  Winnie Ip; H Bobby Gaspar; Robert Kleta; Estelle Chanudet; Chiara Bacchelli; Alison Pitts; Zohreh Nademi; E Graham Davies; Mary A Slatter; Persis Amrolia; Kanchan Rao; Paul Veys; Andrew R Gennery; Waseem Qasim
Journal:  J Clin Immunol       Date:  2015-02-08       Impact factor: 8.317
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