Literature DB >> 15557061

Mosaic Down's syndrome prevalence in a complete population study.

L Devlin, P J Morrison.   

Abstract

Mesh：

Year:  2004        PMID： 15557061      PMCID： PMC1719755          DOI： 10.1136/adc.2003.031765

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  11 in total

1.  Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient.

Authors:  Katja Dumic; Ingeborg Barisic; Kristina Potocki; Ivona Sansovic
Journal:  J Appl Genet       Date:  2011-01-12       Impact factor: 3.240

2.  Generation of a panel of antibodies against proteins encoded on human chromosome 21.

Authors:  Frances K Wiseman; Olivia Sheppard; Jacqueline M Linehan; Sebastian Brandner; Victor L J Tybulewicz; Elizabeth M C Fisher
Journal:  J Negat Results Biomed       Date:  2010-08-20

3.  Deficits in human trisomy 21 iPSCs and neurons.

Authors:  Jason P Weick; Dustie L Held; George F Bonadurer; Matthew E Doers; Yan Liu; Chelsie Maguire; Aaron Clark; Joshua A Knackert; Katharine Molinarolo; Michael Musser; Lin Yao; Yingnan Yin; Jianfeng Lu; Xiaoqing Zhang; Su-Chun Zhang; Anita Bhattacharyya
Journal:  Proc Natl Acad Sci U S A       Date:  2013-05-28       Impact factor: 11.205

4.  Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

Authors:  Maj A Hultén; Jon Jonasson; Ann Nordgren; Erik Iwarsson
Journal:  Curr Genomics       Date:  2010-09       Impact factor: 2.236

5.  Learning And Improvement In Hereditary Diseases: Altnagelvin Hospital, Londonderry, 3rd December 2015.

Authors:  Patrick J Morrison
Journal:  Ulster Med J       Date:  2016-05

Review 6.  Trisomy 21 and Assisted Reproductive Technologies: A review.

Authors:  Edgard Sánchez-Pavón; Hector Mendoza; Javier García-Ferreyra
Journal:  JBRA Assist Reprod       Date:  2022-01-17

7.  An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.

Authors:  Aideen O'Doherty; Sandra Ruf; Claire Mulligan; Victoria Hildreth; Mick L Errington; Sam Cooke; Abdul Sesay; Sonie Modino; Lesley Vanes; Diana Hernandez; Jacqueline M Linehan; Paul T Sharpe; Sebastian Brandner; Timothy V P Bliss; Deborah J Henderson; Dean Nizetic; Victor L J Tybulewicz; Elizabeth M C Fisher
Journal:  Science       Date:  2005-09-23       Impact factor: 63.714

Review 8.  Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.

Authors:  Virginia Miraldi Utz; Diana S Brightman; Monica A Sandoval; Robert B Hufnagel; Howard M Saal
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-05       Impact factor: 3.359

Review 9.  Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells.

Authors:  Youssef Hibaoui; Anis Feki
Journal:  J Clin Med       Date:  2015-04-15       Impact factor: 4.241

10.  Cytogenetic study in children with down syndrome among kosova Albanian population between 2000 and 2010.

Authors:  Selim Kolgeci; Jehona Kolgeci; Mehmedali Azemi; Ruke Shala-Beqiraj; Zafer Gashi; Mentor Sopjani
Journal:  Mater Sociomed       Date:  2013
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