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MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas

Cancer research (Chicago, Ill.), 2012-10, Vol.72 (19), p.5060-5068

2012

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Genetic background influences tumour development in heterozygous Men1 knockout mice

Endocrine Connections, 2020-05, Vol.9 (5), p.426-437

2020

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Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

Nature clinical practice. Endocrinology & metabolism, 2008-01, Vol.4 (1), p.53-58

2008

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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

Endocrine Connections, 2020-02, Vol.9 (2), p.173-186

2020

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OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Nephron. Physiology, 2009-01, Vol.112 (2), p.p27-p36

2009

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Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

The journal of clinical endocrinology and metabolism, 2012-10, Vol.97 (10), p.E1995-E2005

2012

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Human molecular genetics, 2012-06, Vol.21 (12), p.2768-2778

2012

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Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship

Kidney international, 2003-04, Vol.63 (4), p.1426-1432

2003

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Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Journal of bone and mineral research, 2019-07, Vol.34 (7), p.1324-1335

2019

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X-Linked Hypophosphatemia Attributable to Pseudoexons of the PHEX Gene

The journal of clinical endocrinology and metabolism, 2001-08, Vol.86 (8), p.3840-3844

2001

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Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene

Clinical endocrinology (Oxford), 2016-03, Vol.84 (3), p.463-465

2016

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An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

Journal of bone and mineral research, 2019-03, Vol.34 (3), p.497-507

2019

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Asymptomatic Children with Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors

The journal of clinical endocrinology and metabolism, 2009-10, Vol.94 (10), p.3640-3646

2009

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A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

Clinical endocrinology (Oxford), 2010-12, Vol.73 (6), p.715-722

2010

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Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)

Human mutation, 2010, Vol.31 (1), p.E1089-E1101

2010

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Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome

Audiology & neurotology, 2006-01, Vol.11 (6), p.373-379

2006

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Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

Journal of the American Society of Nephrology, 2000-08, Vol.11 (8), p.1460-1468

2000

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Intra-Renal and Subcellular Distribution of the Human Chloride Channel, CLC-5, Reveals a Pathophysiological Basis for Dent's Disease

Human molecular genetics, 1999-02, Vol.8 (2), p.247-257

1999

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MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

The Journal of clinical investigation, 2005-10, Vol.115 (10), p.2832-2842

2005

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Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Clinical endocrinology (Oxford), 2006-11, Vol.65 (5), p.598-605

2006

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Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.442-447

2010

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Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

European journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.442-447

2010

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A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis

The journal of clinical endocrinology and metabolism, 2005-09, Vol.90 (9), p.5386-5392

2005

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Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease

Nephron. Physiology, 2009-01, Vol.112 (4), p.p53-p62

2009

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MEN1 Gene Replacement Therapy Reduces Proliferation Rates in a Mouse Model of Pituitary Adenomas

Genetic background influences tumour development in heterozygous Men1 knockout mice

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship

Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

X-Linked Hypophosphatemia Attributable to Pseudoexons of the PHEX Gene

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene

An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

Asymptomatic Children with Multiple Endocrine Neoplasia Type 1 Mutations May Harbor Nonfunctioning Pancreatic Neuroendocrine Tumors

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease

Intra-Renal and Subcellular Distribution of the Human Chloride Channel, CLC-5, Reveals a Pathophysiological Basis for Dent's Disease

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis

Mutational Analysis of CLC-5, Cofilin and CLC-4 in Patients with Dent’s Disease

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