Literature DB >> 17853473

Further refinement of the candidate region for monosomy 9p syndrome.

Brigitte H W Faas, Nicole de Leeuw, Hanneke Mieloo, Jos Bruinenberg, Bert B A de Vries.   

Abstract

Mesh：

Year:  2007        PMID： 17853473     DOI： 10.1002/ajmg.a.31961

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


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  9 in total

1.  Clinical and neuroradiological features of the 9p deletion syndrome.

Authors:  Peter Spazzapan; Eric Arnaud; Genevieve Baujat; Mathilde Nizon; Valerie Malan; Francis Brunelle; Federico Di Rocco
Journal:  Childs Nerv Syst       Date:  2015-11-23       Impact factor: 1.475

2.  Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Authors:  C Bonnet; M-J Grégoire; M Vibert; E Raffo; B Leheup; P Jonveaux
Journal:  J Hum Genet       Date:  2008-07-24       Impact factor: 3.172

3.  Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.

Authors:  Xueya Hauge; Gordana Raca; Sara Cooper; Kristin May; Rhonda Spiro; Margaret Adam; Christa Lese Martin
Journal:  Genet Med       Date:  2008-08       Impact factor: 8.822

4.  Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Authors:  Michela Barbaro; Antonio Balsamo; Britt Marie Anderlid; Anne Grethe Myhre; Monia Gennari; Annalisa Nicoletti; Maria Carla Pittalis; Mikael Oscarson; Anna Wedell
Journal:  Eur J Hum Genet       Date:  2009-05-06       Impact factor: 4.246

5.  Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Authors:  Daniel L Di Bartolo; Mohamed El Naggar; Renius Owen; Trilochan Sahoo; Fred Gilbert; Venkat R Pulijaal; Susan Mathew
Journal:  Mol Cytogenet       Date:  2012-07-09       Impact factor: 2.009

6.  Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.

Authors:  Nirmala D Sirisena; U Kalpani S Wijetunge; Ramya de Silva; Vajira H W Dissanayake
Journal:  Case Rep Genet       Date:  2013-07-25

7.  Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.

Authors:  Indraneel Banerjee; Senthil Senniappan; Thomas W Laver; Richard Caswell; Martin Zenker; Klaus Mohnike; Tim Cheetham; Matthew N Wakeling; Dunia Ismail; Belinda Lennerz; Miranda Splitt; Merih Berberoğlu; Susann Empting; Martin Wabitsch; Simone Pötzsch; Pratik Shah; Zeynep Siklar; Charles F Verge; Michael N Weedon; Sian Ellard; Khalid Hussain; Sarah E Flanagan
Journal:  Wellcome Open Res       Date:  2020-08-04

8.  From karyotypes to precision genomics in 9p deletion and duplication syndromes.

Authors:  Eleanor I Sams; Jeffrey K Ng; Victoria Tate; Ying-Chen Claire Hou; Yang Cao; Lucinda Antonacci-Fulton; Khadija Belhassan; Julie Neidich; Robi D Mitra; F Sessions Cole; Patricia Dickson; Jeffrey Milbrandt; Tychele N Turner
Journal:  HGG Adv       Date:  2021-12-24

9.  Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.

Authors:  Amal M Mohamed; Alaa K Kamel; Maha M Eid; Ola M Eid; Mona Mekkawy; Shymaa H Hussein; Maha S Zaki; Samira Esmail; Hanan H Afifi; Ghada Y El-Kamah; Ghada A Otaify; Heba Ahmed El-Awady; Aya Elaidy; Mahmoud Y Essa; Mona El-Ruby; Engy A Ashaat; Saida A Hammad; Inas Mazen; Ghada M H Abdel-Salam; Mona Aglan; Samia Temtamy
Journal:  Mol Genet Genomic Med       Date:  2021-10-05       Impact factor: 2.183
  9 in total

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