المؤلفون: Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. pawels@bcm.edu, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG

المصدر: Human mutation [Hum Mutat] 2012 Jan; Vol. 33 (1), pp. 165-79. Date of Electronic Publication: 2011 Nov 02.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Sequence Deletion*, Abnormalities, Multiple/*genetics , Nerve Growth Factors/*genetics , Segmental Duplications, Genomic/*genetics , Vesicular Acetylcholine Transport Proteins/*genetics, Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 10 ; DNA Copy Number Variations ; Developmental Disabilities/complications ; Developmental Disabilities/genetics ; Female ; Genetic Variation ; Homologous Recombination ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Penetrance

المؤلفون: Rosenfeld JA; Signature Genomic Laboratories, Spokane, WA 99207, USA., Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2011 May; Vol. 19 (5), pp. 547-54. Date of Electronic Publication: 2011 Jan 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, Pair 15*, Abnormalities, Multiple/*genetics , Failure to Thrive/*genetics, Child ; Child, Preschool ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male

المؤلفون: Girirajan S; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE

المصدر: Nature genetics [Nat Genet] 2010 Mar; Vol. 42 (3), pp. 203-9. Date of Electronic Publication: 2010 Feb 14.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, Pair 16*/genetics , Models, Genetic*, Developmental Disabilities/*genetics, Adult ; Case-Control Studies ; Child ; Child, Preschool ; Comparative Genomic Hybridization/methods ; Family ; Gene Frequency ; Humans ; Infant ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Recurrence ; Severity of Illness Index