Literature DB >> 1218233

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

J D Miller, V A McKusick, P Malvaux, S Temtamy, C Salinas.   

Abstract

Mesh：

Year:  1975        PMID： 1218233

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  23 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.  CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity.

Authors:  Zhijun Li; Xin-Hai Pei; Jun Yan; Feng Yan; Kathryn M Cappell; Angelique W Whitehurst; Yue Xiong
Journal:  Mol Cell       Date:  2014-05-01       Impact factor: 17.970

Review 4.  Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Authors:  Helen L Storr; Sumana Chatterjee; Louise A Metherell; Corinne Foley; Ron G Rosenfeld; Philippe F Backeljauw; Andrew Dauber; Martin O Savage; Vivian Hwa
Journal:  Endocr Rev       Date:  2019-04-01       Impact factor: 19.871

5.  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

6.  The 3-M syndrome.

Authors:  R M Winter; M Baraitser; D B Grant; M A Preece; C M Hall
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

Review 7.  Stunted growth with more or less normal appearance.

Authors:  J R Bierich; H Enders; U Heinrich; R Huenges; M B Ranke; D Schoenberg
Journal:  Eur J Pediatr       Date:  1982-12       Impact factor: 3.183

8.  Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Authors:  Andrew Dauber; Joan Stoler; Eliana Hechter; Jason Safer; Joel N Hirschhorn
Journal:  J Pediatr       Date:  2012-09-10       Impact factor: 4.406

9.  2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome.

Authors:  A Vimercati; A Chincoli; A C de Gennaro; V DʼAddario; E Cicinelli
Journal:  Geburtshilfe Frauenheilkd       Date:  2016-07       Impact factor: 2.915

10.  Microtia and short stature: a new syndrome.

Authors:  B Cohen; I K Temple; J C Symons; C M Hall; D G Shaw; M Bhamra; A M Jackson; M E Pembrey
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318
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