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S H Pearce

Showing results (21-30 of 48) with videos related to

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The Journal of Clinical Investigation|October 15, 1996
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cellsS H Pearce, M Bai, S J Quinn, et al.
Clinical Endocrinology|August 1, 1996
Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumoursS H Pearce, D Trump, C Wooding, et al.
Lancet (London, England)|September 4, 1999
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathyB Vaidya, H Imrie, P Perros, et al.
The Journal of Clinical Investigation|March 1, 1997
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)S E Lloyd, S H Pearce, W Günther, et al.
Genomics|October 10, 1995
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)S E Fisher, I van Bakel, S E Lloyd, et al.
Thyroid : Official Journal of the American Thyroid Association|February 12, 1998
Mutational analysis of the thyrotropin receptor gene in sporadic and familial feline thyrotoxicosisS H Pearce, D J Foster, H Imrie, et al.
Human Genetics|August 1, 1995
Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBHD Trump, M P Whyte, C Wooding, et al.
The Journal of Clinical Investigation|January 1, 1997
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemiaM Bai, S H Pearce, O Kifor, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2001
Evidence for a Graves' disease susceptibility locus at chromosome Xp11 in a United Kingdom populationH Imrie, B Vaidya, P Perros, et al.
The Journal of Physiology|November 3, 2001
The voltage-dependent Cl(-) channel ClC-5 and plasma membrane Cl(-) conductances of mouse renal collecting duct cells (mIMCD-3)J A Sayer, G S Stewart, S H Boese, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
The Journal of Clinical Investigation|October 15, 1996
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cellsS H Pearce, M Bai, S J Quinn, et al.
Clinical Endocrinology|August 1, 1996
Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumoursS H Pearce, D Trump, C Wooding, et al.
Lancet (London, England)|September 4, 1999
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathyB Vaidya, H Imrie, P Perros, et al.
The Journal of Clinical Investigation|March 1, 1997
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)S E Lloyd, S H Pearce, W Günther, et al.
Genomics|October 10, 1995
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)S E Fisher, I van Bakel, S E Lloyd, et al.
Thyroid : Official Journal of the American Thyroid Association|February 12, 1998
Mutational analysis of the thyrotropin receptor gene in sporadic and familial feline thyrotoxicosisS H Pearce, D J Foster, H Imrie, et al.
Human Genetics|August 1, 1995
Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBHD Trump, M P Whyte, C Wooding, et al.
The Journal of Clinical Investigation|January 1, 1997
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemiaM Bai, S H Pearce, O Kifor, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2001
Evidence for a Graves' disease susceptibility locus at chromosome Xp11 in a United Kingdom populationH Imrie, B Vaidya, P Perros, et al.
The Journal of Physiology|November 3, 2001
The voltage-dependent Cl(-) channel ClC-5 and plasma membrane Cl(-) conductances of mouse renal collecting duct cells (mIMCD-3)J A Sayer, G S Stewart, S H Boese, et al.
Pageof 5