المؤلفون: Fickie MR; Division of Genetics, Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts, USA. matthew.fickie@baystatehealth.org, Stoler JM

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Dec; Vol. 155A (12), pp. 3122-4. Date of Electronic Publication: 2011 Oct 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, X* , Mosaicism*, Abnormalities, Multiple/*diagnosis , Abnormalities, Multiple/*genetics, Bone Neoplasms/diagnosis ; Bone Neoplasms/genetics ; Child, Preschool ; Dermoid Cyst/diagnosis ; Dermoid Cyst/genetics ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Eye Neoplasms/diagnosis ; Eye Neoplasms/genetics ; Fibroma/diagnosis ; Fibroma/genetics ; Humans ; Hyperpigmentation/diagnosis ; Hyperpigmentation/genetics ; Male ; Phenotype ; Syndrome

المؤلفون: Fickie MR; Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School Genetics Training Program, Boston, Massachusetts, USA. matthew.fickie@baystatehealth.org, Lapunzina P, Gentile JK, Tolkoff-Rubin N, Kroshinsky D, Galan E, Gean E, Martorell L, Romanelli V, Toral JF, Lin AE

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Sep; Vol. 155A (9), pp. 2105-11. Date of Electronic Publication: 2011 Aug 10.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Sotos Syndrome*/diagnosis , Sotos Syndrome*/epidemiology , Sotos Syndrome*/genetics, Intracellular Signaling Peptides and Proteins/*genetics , Nuclear Proteins/*genetics, Adult ; Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Craniofacial Abnormalities/genetics ; Female ; Genotype ; Histone Methyltransferases ; Histone-Lysine N-Methyltransferase ; Humans ; Learning Disabilities/genetics ; Male ; Middle Aged ; Phenotype

المؤلفون: Giovanni MA; Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA., Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, Murray MF

المصدر: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2010 Dec; Vol. 14 (6), pp. 817-9. Date of Electronic Publication: 2010 Oct 28.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE

مواضيع طبية MeSH: Access to Information*, Genetic Testing/*economics , Referral and Consultation/*economics, Genes, BRCA1 ; Genes, BRCA2 ; Humans ; Pilot Projects ; Surveys and Questionnaires