Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature
Authors
Keywords
-
Journal
Andrology
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-12-22
DOI
10.1111/andr.12563
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing
- (2018) Luigi Maione et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Testing for genetic contributions to infertility: potential clinical impact
- (2018) Csilla Krausz et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Gonadotropin-Releasing Hormone (GnRH) Receptor Structure and GnRH Binding
- (2017) Colleen A. Flanagan et al. Frontiers in Endocrinology
- The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
- (2017) Thomas Eggermann et al. Molecular Genetics & Genomic Medicine
- Prevalence ofKISS1 Receptormutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study
- (2016) Bruno Francou et al. HUMAN REPRODUCTION
- Structure-Based Sequence Alignment of the Transmembrane Domains of All Human GPCRs: Phylogenetic, Structural and Functional Implications
- (2016) Vaclav Cvicek et al. PLoS Computational Biology
- Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay
- (2015) Pietro Palumbo et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome
- (2015) D.T. Papadimitriou et al. DIABETES & METABOLISM
- Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency
- (2015) Jin-Ho Choi et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
- (2015) Ulrich Boehm et al. Nature Reviews Endocrinology
- Chaperoning G Protein-Coupled Receptors: From Cell Biology to Therapeutics
- (2014) Ya-Xiong Tao et al. ENDOCRINE REVIEWS
- Molecular signatures of G-protein-coupled receptors
- (2013) A. J. Venkatakrishnan et al. NATURE
- Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia
- (2012) Xiaodong Xi et al. THROMBOSIS AND HAEMOSTASIS
- Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia
- (2011) A Aminoff et al. CLINICAL GENETICS
- Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology
- (2011) CE Cottrell et al. CLINICAL GENETICS
- Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for aPKD2missense mutation due to uniparental disomy
- (2011) M Losekoot et al. JOURNAL OF MEDICAL GENETICS
- Uniparental disomy and human disease: An overview
- (2010) Kazuki Yamazawa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started