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Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

BMC endocrine disorders, 2022-03, Vol.22 (1), p.64-64, Article 64

2022

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Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia

PloS one, 2014-12, Vol.9 (12), p.e115178-e115178

2014

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CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

European journal of endocrinology, 2011-09, Vol.165 (3), p.477

2011

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Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors

The journal of clinical endocrinology and metabolism, 2008-12, Vol.93 (12), p.4797-4803

2008

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Familiäre hypocalciurische Hypercalcämie – aktuelle Diagnostik und Therapie 2019

Journal für Mineralstoffwechsel & muskuloskelettale Erkrankungen, 2019-06, Vol.26 (2), p.44-49

2019

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Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature

Hormone research in paediatrics, 2018-01, Vol.89 (3), p.157-165

2018

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Prevalence and clinical spectrum of nonsecretory medullary thyroid carcinoma in a series of 839 patients with sporadic medullary thyroid carcinoma

Thyroid (New York, N.Y.), 2013-03, Vol.23 (3), p.294

2013

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Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype

European journal of endocrinology, 2016-11, Vol.175 (5), p.421

2016

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Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Genome Biology, 2021-04, Vol.22 (1), p.109-23, Article 109

2021

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Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature

Journal of pediatric endocrinology & metabolism : JPEM, 2019-03, Vol.32 (3), p.259

2019

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Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

Clinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.760-765

2011

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Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism

Clinical endocrinology (Oxford), 2011-07, Vol.75 (1), p.50-55

2011

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Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

The journal of clinical endocrinology and metabolism, 2010-10, Vol.95 (10), p.E229-E233

2010

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Amino Alcohol

PloS one, 2014-12, Vol.9 (12)

2014

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Amino Alcohol- Differentially Mitigate Excessive Signalling of Calcium-Sensing Receptor Mutants Causing Bartter Syndrome Type 5 and Autosomal Dominant Hypocalcemia

PloS one, 2014-12, Vol.9 (12)

2014

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Bone mineral density and bone turnover in Romanian children and young adults with classical 21-hydroxylase deficiency are influenced by glucocorticoid replacement therapy

Clinical endocrinology (Oxford), 2009-10, Vol.71 (4), p.477-484

2009

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Diagnosis of Glucocorticoid-Remediable Aldosteronism in Hypertensive Children

Hormone research in paediatrics, 2011-01, Vol.76 (2), p.93-98

2011

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Clinical utility gene card for: multiple endocrine neoplasia type 2

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.3-3

2012

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Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity

Fertility and sterility, 2004-05, Vol.81 (5), p.1314-1321

2004

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Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Hormone research in paediatrics, 2010-01, Vol.74 (1), p.41-49

2010

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Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2008-04, Vol.93 (4), p.1418-1425

2008

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A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency

Hormone research, 2008-01, Vol.70 (3), p.145

2008

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Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey: Activating mutations in the CaSR in ADH

Clinical endocrinology (Oxford), 2011-12, Vol.75 (6), p.760-765

2011

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Change in the spectrum of RET mutations diagnosed between 1994 and 2006

Clinical laboratory (Heidelberg), 2007, Vol.53 (5-6), p.273

2007

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21-Hydroxylase and 11β-Hydroxylase Mutations in Romanian Patients with Classic Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2005-10, Vol.90 (10), p.5769-5773

2005

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Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors

Familiäre hypocalciurische Hypercalcämie – aktuelle Diagnostik und Therapie 2019

Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature

Prevalence and clinical spectrum of nonsecretory medullary thyroid carcinoma in a series of 839 patients with sporadic medullary thyroid carcinoma

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism

Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

Amino Alcohol

Amino Alcohol- Differentially Mitigate Excessive Signalling of Calcium-Sensing Receptor Mutants Causing Bartter Syndrome Type 5 and Autosomal Dominant Hypocalcemia

Bone mineral density and bone turnover in Romanian children and young adults with classical 21-hydroxylase deficiency are influenced by glucocorticoid replacement therapy

Diagnosis of Glucocorticoid-Remediable Aldosteronism in Hypertensive Children

Clinical utility gene card for: multiple endocrine neoplasia type 2

Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity

Alterations in Lipid and Carbohydrate Metabolism in Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia

A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey: Activating mutations in the CaSR in ADH

Change in the spectrum of RET mutations diagnosed between 1994 and 2006

21-Hydroxylase and 11β-Hydroxylase Mutations in Romanian Patients with Classic Congenital Adrenal Hyperplasia

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