Literature DB >> 6716411

The 3-M syndrome.

R M Winter, M Baraitser, D B Grant, M A Preece, C M Hall.   

Abstract

Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M syndrome.

Entities:  

Mesh：

Year:  1984        PMID： 6716411      PMCID： PMC1049241          DOI： 10.1136/jmg.21.2.124

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


  2 in total

1.  The 3-M syndrome: a heritable low birthweight dwarfism.

Authors:  J D Miller; V A McKusick; P Malvaux; S Temtamy; C Salinas
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  "New" dwarfing syndromes.

Authors:  J Spranger
Journal:  Birth Defects Orig Artic Ser       Date:  1977
  2 in total
  8 in total

1.  Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

Authors:  M Le Merrer; R Brauner; P Maroteaux
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

2.  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

3.  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

4.  An adult with 3-M syndrome.

Authors:  M Hari Kumar; M Siva Kumar; Vishalakshi Siva Kumar; Sabitha Hari Kumar
Journal:  BMJ Case Rep       Date:  2015-07-17

Review 5.  Russell-Silver syndrome.

Authors:  M A Patton
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

6.  3M dwarfism: a study of two further sibs.

Authors:  M Feldmann; S Gilgenkrantz; S Parisot; G Zarini; C Marchal
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

7.  The 3-M syndrome: risk of intracerebral aneurysm?

Authors:  R F Mueller; J Buckler; R Arthur; G Bonsor; P Dear; K Walters; G M Towns
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

8.  Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

Authors:  Nadezda Maksimova; Kenju Hara; Irina Nikolaeva; Tan Chun-Feng; Tomoaki Usui; Mineo Takagi; Yasushi Nishihira; Akinori Miyashita; Hiroshi Fujiwara; Tokuhide Oyama; Anna Nogovicina; Aitalina Sukhomyasova; Svetlana Potapova; Ryozo Kuwano; Hitoshi Takahashi; Masatoyo Nishizawa; Osamu Onodera
Journal:  J Med Genet       Date:  2010-06-24       Impact factor: 6.318
  8 in total

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