Literature DB >> 11370636

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

K Hannula, J Kere, S Pirinen, C Holmberg, M Lipsanen-Nyman.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11370636      PMCID： PMC1734847          DOI： 10.1136/jmg.38.4.273

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


× No keyword cloud information.
  17 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

Review 2.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

3.  Diagnostic proceeding in Silver-Russell syndrome.

Authors:  Thomas Eggermann; Esther Meyer; Michael B Ranke; Martin Holder; Stefanie Spranger; Klaus Zerres; Hartmut A Wollmann
Journal:  Mol Diagn       Date:  2005

4.  Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report.

Authors:  Cristina Bulli; Pier Antonio Battistella; Marta Bordignon; Placido Bramanti; Giuseppe Novelli; Federica Sangiuolo
Journal:  Cases J       Date:  2009-04-29

Review 5.  Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.

Authors:  Katrin Õunap
Journal:  Mol Syndromol       Date:  2016-07-06

Review 6.  Silver-Russell syndrome: genetic basis and molecular genetic testing.

Authors:  Thomas Eggermann; Matthias Begemann; Gerhard Binder; Sabrina Spengler
Journal:  Orphanet J Rare Dis       Date:  2010-06-23       Impact factor: 4.123

Review 7.  Colloquium papers: Transfers and transitions: parent-offspring conflict, genomic imprinting, and the evolution of human life history.

Authors:  David Haig
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-04       Impact factor: 11.205

8.  Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Authors:  Lars Feuk; Aino Kalervo; Marita Lipsanen-Nyman; Jennifer Skaug; Kazuhiko Nakabayashi; Brenda Finucane; Danielle Hartung; Micheil Innes; Batsheva Kerem; Malgorzata J Nowaczyk; Joseph Rivlin; Wendy Roberts; Lili Senman; Anne Summers; Peter Szatmari; Virginia Wong; John B Vincent; Susan Zeesman; Lucy R Osborne; Janis Oram Cardy; Juha Kere; Stephen W Scherer; Katariina Hannula-Jouppi
Journal:  Am J Hum Genet       Date:  2006-09-27       Impact factor: 11.025

9.  Epigenotype-phenotype correlations in Silver-Russell syndrome.

Authors:  E L Wakeling; S Abu Amero; M Alders; J Bliek; E Forsythe; S Kumar; D H Lim; F MacDonald; D J Mackay; E R Maher; G E Moore; R L Poole; S M Price; T Tangeraas; C L S Turner; M M Van Haelst; C Willoughby; I K Temple; J M Cobben
Journal:  J Med Genet       Date:  2010-08-03       Impact factor: 6.318

10.  Mulibrey nanism: clinical features and diagnostic criteria.

Authors:  N Karlberg; H Jalanko; J Perheentupa; M Lipsanen-Nyman
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.