Literature DB >> 19396833

Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH.

Keiko Shimojima1, Toshiyuki Yamamoto.   

Abstract

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Year:  2009        PMID: 19396833     DOI: 10.1002/ajmg.a.32783

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


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  4 in total

1.  Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis.

Authors:  Irene M J Mathijssen
Journal:  J Craniofac Surg       Date:  2015-09       Impact factor: 1.046

2.  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

3.  Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.

Authors:  Nancy Choucair; Cecile Mignon-Ravix; Pierre Cacciagli; Joelle Abou Ghoch; Ali Fawaz; André Mégarbané; Laurent Villard; Eliane Chouery
Journal:  Mol Cytogenet       Date:  2015-06-16       Impact factor: 2.009

4.  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

  4 in total

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