Literature DB >> 32925199

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

Eric S Traub1, Sarah E Sheppard2, Yoav Dori3, Katelyn D Burns1, Elaine H Zackai2, Stephanie M Ware1,4, Benjamin J Landis1,4, Dong Li5, David D Weaver1.   

Abstract

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Year:  2021        PMID： 32925199      PMCID： PMC7933106          DOI： 10.1097/MCD.0000000000000347

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.884


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  10 in total

1.  Isolated fetal ascites detected by sonography: an unusual presentation of Turner syndrome.

Authors:  J R Wax; K J Blakemore; I Baser; G Stetten
Journal:  Obstet Gynecol       Date:  1992-05       Impact factor: 7.661

Review 2.  Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.

Authors:  Charlène E U Oduber; Chantal M A M van der Horst; Raoul C M Hennekam
Journal:  Ann Plast Surg       Date:  2008-02       Impact factor: 1.539

Review 3.  Lysosomal storage disorders in the newborn.

Authors:  Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Journal:  Pediatrics       Date:  2009-04       Impact factor: 7.124

4.  Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Authors:  Monika Thapa; Alexander Asamoah; Gordon C Gowans; Kathryn C Platky; Margaret J Barch; Patricia Mouchrani; Cecilia Rajakaruna; Joseph H Hersh
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

5.  Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.

Authors:  Gregor Schlüter; Maren Steckel; Holger Schiffmann; Karsten Harms; Volker Viereck; Günter Emons; Peter Burfeind; Hans-Ulrich Pauer
Journal:  Prenat Diagn       Date:  2005-07       Impact factor: 3.050

6.  Chylous ascites, intestinal lymphangiectasia and the 'yellow-nail' syndrome.

Authors:  P M Duhra; E M Quigley; M N Marsh
Journal:  Gut       Date:  1985-11       Impact factor: 23.059

Review 7.  Perlman syndrome: report, prenatal findings and review.

Authors:  Jean-Luc Alessandri; Fabrice Cuillier; Duksha Ramful; Sandrine Ernould; Stéphanie Robin; Stefan de Napoli-Cocci; Jean-Pierre Rivière; Sylvie Rossignol
Journal:  Am J Med Genet A       Date:  2008-10-01       Impact factor: 2.802

8.  Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

Authors:  R C Hennekam; R A Geerdink; B C Hamel; F A Hennekam; P Kraus; J A Rammeloo; A A Tillemans
Journal:  Am J Med Genet       Date:  1989-12

Review 9.  Trisomy 4q syndrome: presentation of a new case and review of the literature.

Authors:  Catarina Lundin; Lore Zech; Kerstin Sjörs; Claes Wadelius; Göran Annerén
Journal:  Ann Genet       Date:  2002 Apr-Jun

10.  A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy.

Authors:  Gwo-Chin Ma; Chin-San Liu; Shun-Ping Chang; Kun-Tu Yeh; Yu-Yuan Ke; Tze-Ho Chen; Boris Bao-Tyan Wang; Shou-Jen Kuo; Jin-Chung Shih; Ming Chen
Journal:  Prenat Diagn       Date:  2008-11       Impact factor: 3.050
  10 in total
  1 in total

1.  Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

Authors:  Mandi Liu; Christopher L Smith; David M Biko; Dong Li; Erin Pinto; Nora O'Connor; Cara Skraban; Elaine H Zackai; Hakon Hakonarson; Yoav Dori; Sarah E Sheppard
Journal:  Eur J Hum Genet       Date:  2022-05-24       Impact factor: 5.351
  1 in total

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