Literature DB >> 14003438

Chromosomal mosaicism and mongolism.

H ZELLWEGER, G ABBO.   

Abstract

Keywords:  ABNORMALITIES; CHROMOSOMES; MONGOLISM

Mesh：

Year:  1963        PMID： 14003438     DOI： 10.1016/s0140-6736(63)91529-0

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  4 in total

1.  CHROMOSOME MOSAICISM IN AN INDIAN CHILD WITH DOWN'S SYNDROME.

Authors:  A CHAUDHURI; K C CHAUDHURI
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

2.  Mosaic mongolism with normal chromosomal complement in the white blood cells.

Authors:  H Zellweger; G Abbo; M K Nielsen; K Wallwork
Journal:  Humangenetik       Date:  1966

3.  Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

Authors:  L Atkins; C S Bartsocas
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

4.  PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Authors:  Ghayda Mirzaa; Andrew E Timms; Valerio Conti; Evan August Boyle; Katta M Girisha; Beth Martin; Martin Kircher; Carissa Olds; Jane Juusola; Sarah Collins; Kaylee Park; Melissa Carter; Ian Glass; Inge Krägeloh-Mann; David Chitayat; Aditi Shah Parikh; Rachael Bradshaw; Erin Torti; Stephen Braddock; Leah Burke; Sondhya Ghedia; Mark Stephan; Fiona Stewart; Chitra Prasad; Melanie Napier; Sulagna Saitta; Rachel Straussberg; Michael Gabbett; Bridget C O'Connor; Catherine E Keegan; Lim Jiin Yin; Angeline Hwei Meeng Lai; Nicole Martin; Margaret McKinnon; Marie-Claude Addor; Luigi Boccuto; Charles E Schwartz; Agustina Lanoel; Robert L Conway; Koenraad Devriendt; Katrina Tatton-Brown; Mary Ella Pierpont; Michael Painter; Lisa Worgan; James Reggin; Raoul Hennekam; Karen Tsuchiya; Colin C Pritchard; Mariana Aracena; Karen W Gripp; Maria Cordisco; Hilde Van Esch; Livia Garavelli; Cynthia Curry; Anne Goriely; Hulya Kayserilli; Jay Shendure; John Graham; Renzo Guerrini; William B Dobyns
Journal:  JCI Insight       Date:  2016-06-16
  4 in total

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