Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature

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