Literature DB >> 19842200

A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion.

Philippe A Lysy1, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie-Cécile Nassogne, Elisabeth Wyns, Catherine Sibille.   

Abstract

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Year:  2009        PMID： 19842200     DOI： 10.1002/ajmg.a.33056

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


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  9 in total

1.  Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Authors:  Maria C Bonaglia; Susan Marelli; Francesca Novara; Simona Commodaro; Renato Borgatti; Grazia Minardo; Luigi Memo; Elisabeth Mangold; Silvana Beri; Claudio Zucca; Daniele Brambilla; Massimo Molteni; Roberto Giorda; Ruthild G Weber; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

Review 2.  Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Authors:  Merel Klaassens; Deborah Morrogh; Elisabeth M Rosser; Fatima Jaffer; Maaike Vreeburg; Levinus A Bok; Tim Segboer; Martine van Belzen; Ros M Quinlivan; Ajith Kumar; Jane A Hurst; Richard H Scott
Journal:  Eur J Hum Genet       Date:  2014-08-13       Impact factor: 4.246

3.  Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Authors:  Giuseppe Marangi; Daniela Orteschi; Federico Vigevano; Jillian Felie; Christopher A Walsh; M Chiara Manzini; Giovanni Neri
Journal:  Am J Med Genet A       Date:  2012-03-14       Impact factor: 2.802

4.  Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

Authors:  Sarah M Lyon; Darrel Waggoner; Sara Halbach; Erik C Thorland; Leila Khorasani; Russell R Reid
Journal:  Genes Dis       Date:  2015-09-21

5.  Further delineation of Malan syndrome.

Authors:  Manuela Priolo; Denny Schanze; Katrin Tatton-Brown; Paul A Mulder; Jair Tenorio; Kreepa Kooblall; Inés Hernández Acero; Fowzan S Alkuraya; Pedro Arias; Laura Bernardini; Emilia K Bijlsma; Trevor Cole; Christine Coubes; Irene Dapia; Sally Davies; Nataliya Di Donato; Nursel H Elcioglu; Jill A Fahrner; Alison Foster; Noelia García González; Ilka Huber; Maria Iascone; Ann-Sophie Kaiser; Arveen Kamath; Jan Liebelt; Sally Ann Lynch; Saskia M Maas; Corrado Mammì; Inge B Mathijssen; Shane McKee; Leonie A Menke; Ghayda M Mirzaa; Tara Montgomery; Dorothee Neubauer; Thomas E Neumann; Letizia Pintomalli; Maria Antonietta Pisanti; Astrid S Plomp; Sue Price; Claire Salter; Fernando Santos-Simarro; Pierre Sarda; Mabel Segovia; Charles Shaw-Smith; Sarah Smithson; Mohnish Suri; Rita Maria Valdez; Arie Van Haeringen; Johanna M Van Hagen; Marcela Zollino; Pablo Lapunzina; Rajesh V Thakker; Martin Zenker; Raoul C Hennekam
Journal:  Hum Mutat       Date:  2018-06-25       Impact factor: 4.878

Review 6.  Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.

Authors:  Fernanda T Bellucco; Claudia B de Mello; Vera A Meloni; Maria Isabel Melaragno
Journal:  Mol Genet Genomic Med       Date:  2019-10-01       Impact factor: 2.183

7.  A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

Authors:  Abdelhafid Natiq; Siham Chafai Elalaoui; Sevrine Miesch; Celine Bonnet; Philippe Jonveaux; Saaïd Amzazi; Abdelaziz Sefiani
Journal:  Mol Cytogenet       Date:  2014-06-05       Impact factor: 2.009

8.  19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.

Authors:  Hai-Yun Dong; Hui Zeng; Yi-Qiao Hu; Li Xie; Jian Wang; Xiu-Ying Wang; Yi-Feng Yang; Zhi-Ping Tan
Journal:  Mol Cytogenet       Date:  2016-09-22       Impact factor: 2.009

9.  Perinatal findings in a patient with a novel large chromosome 19p deletion.

Authors:  Marko Culjat; Jennifer Razak; Reem Saadeh-Haddad; Rita Driggers; Karen Kamholz; Julia Timofeev
Journal:  Clin Case Rep       Date:  2018-06-21
  9 in total

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