Literature DB >> 25714559

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Daniel Nyboe1, Sven Kreiborg, Maria Kirchhoff, Hanne B Hove.   

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Year:  2015        PMID： 25714559     DOI： 10.1097/MCD.0000000000000079

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  8 in total

1.  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

2.  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

3.  Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

Authors:  Tomoko Uehara; Rikako Sanuki; Yurie Ogura; Atsushi Yokoyama; Takeshi Yoshida; Hiroshi Futagawa; Hiroshi Yoshihashi; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Kohei Matsubara; Hiromi Hirata; Kenjiro Kosaki; Toshiyuki Takano-Shimizu
Journal:  Am J Med Genet A       Date:  2021-05-11       Impact factor: 2.802

4.  Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

Authors:  Victor Murcia Pienkowski; Marzena Kucharczyk; Małgorzata Rydzanicz; Barbara Poszewiecka; Katarzyna Pachota; Marlena Młynek; Piotr Stawiński; Agnieszka Pollak; Joanna Kosińska; Katarzyna Wojciechowska; Monika Lejman; Agata Cieślikowska; Dorota Wicher; Agnieszka Stembalska; Karolina Matuszewska; Anna Materna-Kiryluk; Anna Gambin; Krystyna Chrzanowska; Małgorzata Krajewska-Walasek; Rafał Płoski
Journal:  J Clin Med       Date:  2020-04-25       Impact factor: 4.241

5.  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

6.  CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes.

Authors:  Emanuele G Coci; Udo Koehler; Thomas Liehr; Armin Stelzner; Christian Fink; Hendrik Langen; Joachim Riedel
Journal:  Mol Cytogenet       Date:  2016-02-03       Impact factor: 2.009

7.  Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Authors:  Alessandro Salvi; Edoardo Giacopuzzi; Elena Bardellini; Francesca Amadori; Lia Ferrari; Giuseppina De Petro; Giuseppe Borsani; Alessandra Majorana
Journal:  Int J Mol Med       Date:  2016-09-19       Impact factor: 4.101

8.  A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.

Authors:  Yan Zhang; Cai Mei Lin; Xiao Lan Zheng; Kuerbanjiang Abuduxikuer
Journal:  Mol Genet Genomic Med       Date:  2020-09-14       Impact factor: 2.183
  8 in total

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