Literature DB >> 3901753

The Brachmann-de Lange syndrome.

J M Opitz.   

Abstract

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Year:  1985        PMID： 3901753     DOI： 10.1002/ajmg.1320220110

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  31 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

Review 2.  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

3.  Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange.

Authors:  J Yan; F Zhang; E Brundage; A Scheuerle; B Lanpher; R P Erickson; Z Powis; H B Robinson; P L Trapane; D Stachiw-Hietpas; K M Keppler-Noreuil; S R Lalani; T Sahoo; A C Chinault; A Patel; S W Cheung; J R Lupski
Journal:  J Med Genet       Date:  2008-12-03       Impact factor: 6.318

Review 4.  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

Review 5.  Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.

Authors:  Dale Dorsett
Journal:  Chromosoma       Date:  2006-07-04       Impact factor: 4.316

6.  Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.

Authors:  M G Butler; G A Dahir; D D Gale; F J Meaney
Journal:  Am J Med Genet       Date:  1993-11-15

7.  Cornelia de Lange Syndrome with NIPBL gene mutation: a case report.

Authors:  Kyung-Hee Park; Seung-Tae Lee; Chang-Seok Ki; Shin-Yun Byun
Journal:  J Korean Med Sci       Date:  2010-11-24       Impact factor: 2.153

8.  Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Anne L Calof; Rosaysela Santos; Martha E Lopez-Burks; Clint M Young; Michelle P Hoang; Abigail Chua; Taotao Lao; Mark S Lechner; Jeremy A Daniel; Andre Nussenzweig; Leonard Kitzes; Kyoko Yokomori; Benedikt Hallgrimsson; Arthur D Lander
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

9.  A newborn with Cornelia de Lange syndrome: a case report.

Authors:  Hakan Uzun; Dursun Ali Senses; Munevver Uluba; Kenan Kocabay
Journal:  Cases J       Date:  2008-11-19

10.  Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

Authors:  Isabel M Carreira; Joana B Melo; Carlos Rodrigues; Liesbeth Backx; Joris Vermeesch; Anja Weise; Nadezda Kosyakova; Guiomar Oliveira; Eunice Matoso
Journal:  Mol Cytogenet       Date:  2009-08-04       Impact factor: 2.009
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