Literature DB >> 23900270

Clinical utility gene card for: 3-M syndrome - update 2013.

Muriel Holder-Espinasse1, Melita Irving1, Valérie Cormier-Daire2.   

Abstract

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Year:  2013        PMID： 23900270      PMCID： PMC3953895          DOI： 10.1038/ejhg.2013.156

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  16 in total

1.  Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Authors:  K Avela; M Lipsanen-Nyman; N Idänheimo; E Seemanová; S Rosengren; T P Mäkelä; J Perheentupa; A D Chapelle; A E Lehesjoki
Journal:  Nat Genet       Date:  2000-07       Impact factor: 38.330

Review 2.  3-M syndrome: description of six new patients with review of the literature.

Authors:  G van der Wal; B J Otten; H G Brunner; I van der Burgt
Journal:  Clin Dysmorphol       Date:  2001-10       Impact factor: 0.816

3.  3-M syndrome in two sisters.

Authors:  I Marik; O Marikova; M Kuklik; D Zemkova; K Kozlowski
Journal:  J Paediatr Child Health       Date:  2002-08       Impact factor: 1.954

4.  Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Authors:  N Maksimova; K Hara; A Miyashia; I Nikolaeva; A Shiga; A Nogovicina; A Sukhomyasova; V Argunov; A Shvedova; T Ikeuchi; M Nishizawa; R Kuwano; O Onodera
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

5.  A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Authors:  Céline Huber; Anee-Lise Delezoide; Fabien Guimiot; Clarisse Baumann; Valérie Malan; Martine Le Merrer; Daniela Bezerra Da Silva; Dominique Bonneau; Pierre Chatelain; Carol Chu; Robin Clark; Helen Cox; Patrick Edery; Thomas Edouard; Virginia Fano; Kate Gibson; Gabriele Gillessen-Kaesbach; Maria-Luisa Giovannucci-Uzielli; Luitgard Margarete Graul-Neumann; Johana-Maria van Hagen; Liselot van Hest; Dafne Horovitz; Judith Melki; Carl-Joachim Partsch; Henry Plauchu; Anna Rajab; Massimiliano Rossi; David Sillence; Elisabeth Steichen-Gersdorf; Helen Stewart; Sheila Unger; Martin Zenker; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2008-10-29       Impact factor: 4.246

6.  Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Authors:  Alison M Elliott; John M Graham; Cynthia J R Curry; Tuya Pal; David L Rimoin; Ralph S Lachman
Journal:  Am J Med Genet       Date:  2002-12-15

Review 7.  3-M syndrome: a report of three Egyptian cases with review of the literature.

Authors:  Samia A Temtamy; Mona S Aglan; Adel M Ashour; Magda I Ramzy; Laila A Hosny; Mostafa I Mostafa
Journal:  Clin Dysmorphol       Date:  2006-04       Impact factor: 0.816

8.  The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Authors:  Dan Hanson; Philip G Murray; Amit Sud; Samia A Temtamy; Mona Aglan; Andrea Superti-Furga; Sue E Holder; Jill Urquhart; Emma Hilton; Forbes D C Manson; Peter Scambler; Graeme C M Black; Peter E Clayton
Journal:  Am J Hum Genet       Date:  2009-05-28       Impact factor: 11.025

9.  Identification of mutations in CUL7 in 3-M syndrome.

Authors:  Céline Huber; Dora Dias-Santagata; Anna Glaser; James O'Sullivan; Raja Brauner; Kenneth Wu; Xinsong Xu; Kerra Pearce; Rong Wang; Maria Luisa Giovannucci Uzielli; Nathalie Dagoneau; Wassim Chemaitilly; Andrea Superti-Furga; Heloisa Dos Santos; André Mégarbané; Gilles Morin; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Ineke Van der Burgt; Graeme C M Black; Peter E Clayton; Andrew Read; Martine Le Merrer; Peter J Scambler; Arnold Munnich; Zhen-Qiang Pan; Robin Winter; Valérie Cormier-Daire
Journal:  Nat Genet       Date:  2005-09-04       Impact factor: 38.330

10.  Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

Authors:  D Hanson; P G Murray; T Coulson; A Sud; A Omokanye; E Stratta; F Sakhinia; C Bonshek; L C Wilson; E Wakeling; S A Temtamy; M Aglan; E M Rosser; S Mansour; A Carcavilla; S Nampoothiri; W I Khan; I Banerjee; K E Chandler; G C M Black; P E Clayton
Journal:  J Mol Endocrinol       Date:  2012-10-30       Impact factor: 5.098
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  3 in total

1.  Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.

Authors:  Lihong Liao; Hoong-Wei Gan; Vivian Hwa; Mehul Dattani; Andrew Dauber
Journal:  Horm Res Paediatr       Date:  2017-07-04       Impact factor: 2.852

2.  A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.

Authors:  Melikşah Keskin; Nursel Muratoğlu Şahin; Erdal Kurnaz; Elvan Bayramoğlu; Şenay Savaş Erdeve; Zehra Aycan; Semra Çetinkaya
Journal:  J Clin Res Pediatr Endocrinol       Date:  2016-10-31

3.  Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.

Authors:  Li Hu; Xike Wang; Tingting Jin; Yuanyuan Han; Juan Liu; Minmin Jiang; Shujuan Yan; Xiaoling Fu; Bangquan An; Shengwen Huang
Journal:  J Clin Lab Anal       Date:  2020-03-06       Impact factor: 2.352
  3 in total

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