Literature DB >> 12011165

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations.

C Hernando, A Plaja, M A Rigola, M M Pérez, T Vendrell, J Egocue, C Fuster.   

Abstract

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Year:  2002        PMID： 12011165      PMCID： PMC1735111          DOI： 10.1136/jmg.39.5.e24

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Authors:  Zivilė Ciuladaitė; Jūratė Kasnauskienė; Loreta Cimbalistienė; Eglė Preikšaitienė; Philippos C Patsalis; Vaidutis Kučinskas
Journal:  J Appl Genet       Date:  2011-09-20       Impact factor: 3.240

2.  16p11.2 transcription factor MAZ is a dosage-sensitive regulator of genitourinary development.

Authors:  Meade Haller; Jason Au; Marisol O'Neill; Dolores J Lamb
Journal:  Proc Natl Acad Sci U S A       Date:  2018-02-05       Impact factor: 11.205

3.  Microarray analysis in pregnancies with isolated unilateral kidney agenesis.

Authors:  Lena Sagi-Dain; Idit Maya; Amir Peleg; Adi Reches; Ehud Banne; Hagit N Baris; Tamar Tenne; Amihood Singer; Shay Ben-Shachar
Journal:  Pediatr Res       Date:  2018-02-07       Impact factor: 3.756

4.  Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Authors:  Andrée Delahaye; Pierre Bitoun; Séverine Drunat; Marion Gérard-Blanluet; Nicolas Chassaing; Annick Toutain; Alain Verloes; Frédérique Gatelais; Marie Legendre; Laurence Faivre; Sandrine Passemard; Azzedine Aboura; Sophie Kaltenbach; Samuel Quentin; Céline Dupont; Anne-Claude Tabet; Serge Amselem; Jacques Elion; Pierre Gressens; Eva Pipiras; Brigitte Benzacken
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246

5.  Are copy number variants associated with adolescent idiopathic scoliosis?

Authors:  Jillian G Buchan; David M Alvarado; Gabe Haller; Hyuliya Aferol; Nancy H Miller; Matthew B Dobbs; Christina A Gurnett
Journal:  Clin Orthop Relat Res       Date:  2014-07-09       Impact factor: 4.176

Review 6.  Novel microdeletion syndromes detected by chromosome microarrays.

Authors:  Anne M Slavotinek
Journal:  Hum Genet       Date:  2008-05-30       Impact factor: 4.132

7.  Nine de novo duplications affecting both maternal and paternal chromosomes and an inherited 15q11.2 deletion, in a patient with developmental delay.

Authors:  Marwan K Tayeh; Tracy Rocco; Todd Ackley; Leslie Ernst; Thomas Glover; Jeffrey W Innis
Journal:  Clin Case Rep       Date:  2015-04-09

8.  The transcription factor Maz is essential for normal eye development.

Authors:  Olga Medina-Martinez; Meade Haller; Jill A Rosenfeld; Marisol A O'Neill; Dolores J Lamb; Milan Jamrich
Journal:  Dis Model Mech       Date:  2020-08-18       Impact factor: 5.758

9.  Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Authors:  Candice K Silversides; Anath C Lionel; Gregory Costain; Daniele Merico; Ohsuke Migita; Ben Liu; Tracy Yuen; Jessica Rickaby; Bhooma Thiruvahindrapuram; Christian R Marshall; Stephen W Scherer; Anne S Bassett
Journal:  PLoS Genet       Date:  2012-08-09       Impact factor: 5.917

10.  A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Authors:  Justyna A Karolak; Tomasz Gambin; Engela M Honey; Tomas Slavik; Edwina Popek; Paweł Stankiewicz
Journal:  BMC Med Genomics       Date:  2020-03-06       Impact factor: 3.063
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