Literature DB >> 18784093

Cytogenetic technology--genotype and phenotype.

David H Ledbetter.   

Abstract

Mesh:

Year:  2008        PMID: 18784093     DOI: 10.1056/NEJMe0806570

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  10 in total

1.  Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Authors:  Bixia Xiang; Hongbo Zhu; Yiping Shen; David T Miller; Kangmo Lu; Xiaofeng Hu; Hans C Andersson; Tarachandra M Narumanchi; Yueying Wang; Jose E Martinez; Bai-Lin Wu; Peining Li; Marilyn M Li; Tian-Jian Chen; Yao-Shan Fan
Journal:  J Mol Diagn       Date:  2010-01-21       Impact factor: 5.568

2.  Genetic counseling, activism and 'genotype-first' diagnosis of developmental disorders.

Authors:  Daniel Navon
Journal:  J Genet Couns       Date:  2012-07-21       Impact factor: 2.537

Review 3.  Attention deficits, Attention-Deficit Hyperactivity Disorder, and intellectual disabilities.

Authors:  Curtis K Deutsch; William V Dube; William J McIlvane
Journal:  Dev Disabil Res Rev       Date:  2008

Review 4.  Review of genetic factors in intestinal malrotation.

Authors:  Vicki Martin; Charles Shaw-Smith
Journal:  Pediatr Surg Int       Date:  2010-06-13       Impact factor: 1.827

5.  Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Authors:  Martin Poot; Marc J Eleveld; Ruben van 't Slot; Hans Kristian Ploos van Amstel; Ron Hochstenbach
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

Review 6.  Disease-targeted sequencing: a cornerstone in the clinic.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2013-03-12       Impact factor: 53.242

7.  A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.

Authors:  Marian Reiff; Rebecca Mueller; Surabhi Mulchandani; Nancy B Spinner; Reed E Pyeritz; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2013-09-14       Impact factor: 2.537

Review 8.  Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

Authors:  Charles Shaw-Smith
Journal:  Eur J Med Genet       Date:  2009-10-12       Impact factor: 2.708

Review 9.  Multiple rare variants in the etiology of autism spectrum disorders.

Authors:  Joseph D Buxbaum
Journal:  Dialogues Clin Neurosci       Date:  2009       Impact factor: 5.986

10.  NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Authors:  Jean-Marc Good; Isis Atallah; Mayte Castro Jimenez; David Benninger; Thierry Kuntzer; Andrea Superti-Furga; Christel Tran
Journal:  Genes (Basel)       Date:  2021-05-06       Impact factor: 4.096

  10 in total

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