Literature DB >> 16086407

Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome.

R Hulinsky, J L B Byrne, A Lowichik, D H Viskochil.   

Abstract

Entities:  

Mesh：

Year:  2005        PMID： 16086407     DOI： 10.1002/ajmg.a.30856

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  8 in total

Review 1.  Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Authors:  Samantha A Schrier; Ilana Sherer; Matthew A Deardorff; Dinah Clark; Lynn Audette; Lynette Gillis; Antonie D Kline; Linda Ernst; Kathleen Loomes; Ian D Krantz; Laird G Jackson
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

Review 2.  Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Authors:  Linda Mannini; Francesco Cucco; Valentina Quarantotti; Ian D Krantz; Antonio Musio
Journal:  Hum Mutat       Date:  2013-09-16       Impact factor: 4.878

Review 3.  Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Authors:  Dinah M Clark; Ilana Sherer; Matthew A Deardorff; Janice L B Byrne; Kathleen M Loomes; Malgorzata J M Nowaczyk; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

4.  Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.

Authors:  Morasha Plesser Duvdevani; Maria Pettersson; Jesper Eisfeldt; Ortal Avraham; Judith Dagan; Ayala Frumkin; James R Lupski; Anna Lindstrand; Tamar Harel
Journal:  Am J Med Genet A       Date:  2020-03-03       Impact factor: 2.802

5.  Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.

Authors:  Silvia Russo; Maura Masciadri; Cristina Gervasini; Jacopo Azzollini; Anna Cereda; Giuseppe Zampino; Oskar Haas; Gioacchino Scarano; Maja Di Rocco; Palma Finelli; Romano Tenconi; Angelo Selicorni; Lidia Larizza
Journal:  Eur J Hum Genet       Date:  2012-02-22       Impact factor: 4.246

6.  Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.

Authors:  Danielle Veenma; Niels Beurskens; Hannie Douben; Bert Eussen; Petra Noomen; Lutgarde Govaerts; Els Grijseels; Maarten Lequin; Ronald de Krijger; Dick Tibboel; Annelies de Klein; Dian Van Opstal
Journal:  PLoS One       Date:  2010-12-21       Impact factor: 3.240

7.  NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.

Authors:  Davut Pehlivan; Melanie Hullings; Claudia M B Carvalho; Claudia G Gonzaga-Jauregui; Elizabeth Loy; Laird G Jackson; Ian D Krantz; Matthew A Deardorff; James R Lupski
Journal:  Genet Med       Date:  2012-01-05       Impact factor: 8.822

8.  Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report.

Authors:  Niranjalee Samanthika Egodawaththe; Sumudu Nimali Seneviratne; Suvini Gunasekara; Sathika Manori Amarasekara; Kumudu Weerasekara
Journal:  J Med Case Rep       Date:  2020-09-16
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.