Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: Detection of a hemizygosis for the fibroblast growth factor receptor 1

Clinical Endocrinology

Volumn 72, Issue 3, 2010, Pages 371-376

  Trarbach, Ericka Barbosa ^a   Teles, Milena Gurgel ^a   Costa, Elaine Maria Frade ^a   Abreu, Ana Paula ^a   Garmes, Heraldo Mendes ^b   Guerra Jr , Gil ^b   Baptista, Maria Tereza Matias ^b   De Castro, Margaret ^a   Mendonca, Berenice Bilharinho ^a   Latronico, Ana Claudia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; G PROTEIN COUPLED RECEPTOR 54; GONADORELIN; GONADORELIN RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; FEMALE; FGFR1 GENE; FOOT CAVUS; FOOT MALFORMATION; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GNRH1 GENE; GNRHR GENE; GPR54 GENE; HEMIZYGOSITY; HETEROZYGOTE; HORMONE DEFICIENCY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NELF GENE; OGIVAL PALATE; PALATE MALFORMATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCREENING; SEX DIFFERENCE;

ADOLESCENT; ADULT; BRAZIL; CHROMOSOME DISORDERS; EXONS; FEMALE; GENE DELETION; GENE DOSAGE; HUMANS; HYPOGONADISM; LIGASE CHAIN REACTION; MALE; MIDDLE AGED; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; YOUNG ADULT;

EID: 76649143447     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03642.x     Document Type: Article

References (20)

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