Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms.

Daum, H; Meiner, V; Hacohen, N; Zvi, N; Eilat, A; Drai-Hasid, R; Yagel, S; Zenvirt, S; Frumkin, A

Daum, H; Meiner, V; Hacohen, N; Zvi, N; Eilat, A; Drai-Hasid, R; Yagel, S; Zenvirt, S; Frumkin, A.

Afiliação

Daum H; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Meiner V; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Hacohen N; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Zvi N; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Eilat A; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Drai-Hasid R; Department of Obstetrics and Gynecology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Yagel S; Department of Obstetrics and Gynecology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Zenvirt S; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Frumkin A; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Ultrasound Obstet Gynecol ; 54(5): 655-660, 2019 Nov.

Article em En | MEDLINE | ID: mdl-30693591

Assuntos

Deleção Cromossômica; Transtornos Cromossômicos/diagnóstico; Polimorfismo de Nucleotídeo Único/genética; Diagnóstico Pré-Natal/métodos; Dissomia Uniparental/diagnóstico; Transtornos Cromossômicos/genética; Feminino; Impressão Genômica; Humanos; Análise em Microsséries/métodos; Gravidez; Dissomia Uniparental/genética

Palavras-chave

CMA; Kagami-Ogata syndrome; absence of heterozygosity; biochemical screening test; fetal malformation; imprinting disorder; maternal serum analyte; monogenic disease; prenatal diagnosis; runs of homozygosity; uniparental disomy

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Deleção Cromossômica / Transtornos Cromossômicos / Polimorfismo de Nucleotídeo Único / Dissomia Uniparental Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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