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Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations

European journal of endocrinology, 2014-10, Vol.171 (4), p.499-507

2014

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GnRH receptor mutations in isolated gonadotropic deficiency

Molecular and cellular endocrinology, 2011-10, Vol.346 (1), p.21-28

2011

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The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

Neurology, 2008-05, Vol.70 (22 Pt 2), p.2145-2151

2008

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Clinical and molecular genetics of the human GnRH receptor

Human reproduction update, 2003-11, Vol.9 (6), p.523-530

2003

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The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred

The journal of clinical endocrinology and metabolism, 1999-02, Vol.84 (2), p.567-572

1999

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FGFR1 Mutations in Kallmann Syndrome

Frontiers of hormone research, 2010, Vol.39, p.51-61

2010

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Inherited disorders of GnRH and gonadotropin receptors

Molecular and cellular endocrinology, 2001-06, Vol.179 (1), p.83-87

2001

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A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism

The journal of clinical endocrinology and metabolism, 1996-06, Vol.81 (6), p.2023-2026

1996

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Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis

Gut, 2003-08, Vol.52 (8), p.1178-1181

2003

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A Novel Loss-of-Function Mutation in GPR54/KISS1R Leads to Hypogonadotropic Hypogonadism in a Highly Consanguineous Family

Endocrinology (Philadelphia), 2011-01, Vol.152 (1), p.333-333

2011

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Hypogonadotropic Hypogonadism Due to Loss of Function of the KiSS1-Derived Peptide Receptor GPR54

Proceedings of the National Academy of Sciences - PNAS, 2003-09, Vol.100 (19), p.10972-10976

2003

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Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

Journal of medical genetics, 2004-06, Vol.41 (6), p.e85-e85

2004

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Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

European journal of medical genetics, 2006, Vol.49 (1), p.9-18

2006

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The Colour and Stereo Surface Imaging System (CaSSIS) for the ExoMars Trace Gas Orbiter

Space science reviews, 2017-11, Vol.212 (3-4), p.1897-1944

2017

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Four families with loss of function mutations of the thyrotropin receptor

The journal of clinical endocrinology and metabolism, 1996-12, Vol.81 (12), p.4229-4235

1996

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Oliver-McFarlane syndrome: mutations of PNPLA6 and follow-up of 30 years in two brothers

European journal of human genetics : EJHG, 2019, Vol.27 (1)

2019

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Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.1011-1014

2017

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Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene

Molecular and cellular endocrinology, 1996-03, Vol.117 (2), p.253-256

1996

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MECP2 mutations account for most cases of typical forms of Rett syndrome

Human molecular genetics, 2000-05, Vol.9 (9), p.1377-1384

2000

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A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

The New England journal of medicine, 1997-11, Vol.337 (22), p.1597-1603

1997

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High tumoral levels of Kiss1 and G-protein-coupled receptor 54 expression are correlated with poor prognosis of estrogen receptor-positive breast tumors

Endocrine-related cancer, 2007-09, Vol.14 (3), p.691-702

2007

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An Inactivating Mutation within the First Extracellular Loop of the Thyrotropin Receptor Impedes Normal Posttranslational Maturation of the Extracellular Domain

Endocrinology (Philadelphia), 2009-02, Vol.150 (2), p.1043-1050

2009

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High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

Yearbook of Paediatric Endocrinology, 2019-09

2019

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Na+/H+ antiporter gene expression during monocytic differentiation of HL60 cells

The Journal of biological chemistry, 1991-07, Vol.266 (21), p.13485-13488

1991

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Analysis of the thyrotropin receptor as a candidate gene in familial graves' disease

The journal of clinical endocrinology and metabolism, 1996-10, Vol.81 (10), p.3483-3486

1996

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Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations

GnRH receptor mutations in isolated gonadotropic deficiency

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

Clinical and molecular genetics of the human GnRH receptor

The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred

FGFR1 Mutations in Kallmann Syndrome

Inherited disorders of GnRH and gonadotropin receptors

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism

Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis

A Novel Loss-of-Function Mutation in GPR54/KISS1R Leads to Hypogonadotropic Hypogonadism in a Highly Consanguineous Family

Hypogonadotropic Hypogonadism Due to Loss of Function of the KiSS1-Derived Peptide Receptor GPR54

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

The Colour and Stereo Surface Imaging System (CaSSIS) for the ExoMars Trace Gas Orbiter

Four families with loss of function mutations of the thyrotropin receptor

Oliver-McFarlane syndrome: mutations of PNPLA6 and follow-up of 30 years in two brothers

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene

MECP2 mutations account for most cases of typical forms of Rett syndrome

A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

High tumoral levels of Kiss1 and G-protein-coupled receptor 54 expression are correlated with poor prognosis of estrogen receptor-positive breast tumors

An Inactivating Mutation within the First Extracellular Loop of the Thyrotropin Receptor Impedes Normal Posttranslational Maturation of the Extracellular Domain

High prevalence of syndromic disorders in patients with non-isolated central precocious puberty

Na+/H+ antiporter gene expression during monocytic differentiation of HL60 cells

Analysis of the thyrotropin receptor as a candidate gene in familial graves' disease

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