Literature DB >> 24657733

Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.

Jianling Ji1, Noriko Salamon2, Fabiola Quintero-Rivera3.   

Abstract

Entities:  

Keywords:  CNS defect; Chromosome 1p32-p31; Hypoplastic corpus callosum; Microdeletion; NFIA gene; Urinary tract defect

Mesh：

Substances：

Year:  2014        PMID： 24657733     DOI： 10.1016/j.ejmg.2014.03.004

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


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  7 in total

1.  Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Authors:  Ilan Gobius; Laura Morcom; Rodrigo Suárez; Jens Bunt; Polina Bukshpun; William Reardon; William B Dobyns; John L R Rubenstein; A James Barkovich; Elliott H Sherr; Linda J Richards
Journal:  Cell Rep       Date:  2016-10-11       Impact factor: 9.423

2.  Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Authors:  Carlos I Rivera-Pedroza; Jimena Barraza-García; Beatriz Paumard-Hernández; Julian Nevado; Carlos Orbea-Gallardo; Jaime Sánchez Del Pozo; Karen E Heath
Journal:  Mol Syndromol       Date:  2016-11-17

3.  NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Authors:  Ina Schanze; Jens Bunt; Jonathan W C Lim; Denny Schanze; Ryan J Dean; Marielle Alders; Patricia Blanchet; Tania Attié-Bitach; Siren Berland; Steven Boogert; Sangamitra Boppudi; Caitlin J Bridges; Megan T Cho; William B Dobyns; Dian Donnai; Jessica Douglas; Dawn L Earl; Timothy J Edwards; Laurence Faivre; Brieana Fregeau; David Genevieve; Marion Gérard; Vincent Gatinois; Muriel Holder-Espinasse; Samuel F Huth; Kosuke Izumi; Bronwyn Kerr; Elodie Lacaze; Phillis Lakeman; Sonal Mahida; Ghayda M Mirzaa; Sian M Morgan; Catherine Nowak; Hilde Peeters; Florence Petit; Daniela T Pilz; Jacques Puechberty; Eyal Reinstein; Jean-Baptiste Rivière; Avni B Santani; Anouck Schneider; Elliott H Sherr; Constance Smith-Hicks; Ilse Wieland; Elaine Zackai; Xiaonan Zhao; Richard M Gronostajski; Martin Zenker; Linda J Richards
Journal:  Am J Hum Genet       Date:  2018-11-01       Impact factor: 11.025

4.  Truncating mutation in NFIA causes brain malformation and urinary tract defects.

Authors:  Yutaka Negishi; Fuyuki Miya; Ayako Hattori; Kentaro Mizuno; Ikumi Hori; Naoki Ando; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh
Journal:  Hum Genome Var       Date:  2015-02-26

5.  Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.

Authors:  Gregorio Serra; Vincenzo Antona; Mario Giuffrè; Ettore Piro; Sergio Salerno; Ingrid Anne Mandy Schierz; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2022-03-04       Impact factor: 2.638

6.  Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Authors:  Jonathan D J Labonne; Yiping Shen; Il-Keun Kong; Michael P Diamond; Lawrence C Layman; Hyung-Goo Kim
Journal:  Mol Cytogenet       Date:  2016-03-17       Impact factor: 2.009

7.  A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.

Authors:  Maoying Jiang; Shanlin Wang; Fei Li; Juan Geng; Yiting Ji; Ke Li; Xiaodong Jiang
Journal:  Medicine (Baltimore)       Date:  2020-11-06       Impact factor: 1.817
  7 in total

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