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COL4A1 Mutation in Preterm Intraventricular Hemorrhage

The Journal of pediatrics, 2009-11, Vol.155 (5), p.743-745

2009

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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Nature genetics, 2012-09, Vol.44 (9), p.1006-1014

2012

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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

Nature genetics, 1998-07, Vol.19 (3), p.279-281

1998

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Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

Nature genetics, 1997-06, Vol.16 (2), p.202-205

1997

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Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Nature genetics, 2000-09, Vol.26 (1), p.71-75

2000

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Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

Nature genetics, 1995-09, Vol.11 (1), p.76-82

1995

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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Nature genetics, 1999-01, Vol.21 (1), p.84-90

1999

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IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23

Nature genetics, 2000-11, Vol.26 (3), p.354-357

2000

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Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Nature genetics, 1996-03, Vol.12 (3), p.248-253

1996

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Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III

Nature genetics, 1997-10, Vol.17 (2), p.171-178

1997

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Familial cortical myoclonus with a mutation in NOL3

Annals of neurology, 2012-08, Vol.72 (2), p.175-183

2012

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Determinants of erythrocyte hydration

Current opinion in hematology, 2010-05, Vol.17 (3), p.191

2010

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Bartter syndrome and focal segmental glomerulosclerosis : a possible link between two diseases

Pediatric nephrology (Berlin, West), 2000-09, Vol.14 (10-11), p.970-972

2000

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Clinical and Genetic Correlates of Serum Aldosterone in the Community: The Framingham Heart Study

American journal of hypertension, 2005-05, Vol.18 (5), p.657-665

2005

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The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2569-2572

2009

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Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

Neurogenetics, 2008-05, Vol.9 (2), p.119-125

2008

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Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype

Annals of internal medicine, 1992-05, Vol.116 (10), p.813-820

1992

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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

Nature genetics, 1996-10, Vol.14 (2), p.152-156

1996

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Finding genes that cause human hypertension

Journal of hypertension, 1993-03, Vol.11 (3), p.231-236

1993

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Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Nature genetics, 1996, Vol.12 (1), p.24-30

1996

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Low peripheral plasma renin activity as a critical marker in pediatric hypertension

Pediatric nephrology (Berlin, West), 1997-06, Vol.11 (3), p.343-346

1997

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Glucocorticoid-remediable aldosteronism (GRA): Diagnosis, variability of phenotype and regulation of potassium homeostasis

Steroids, 1995, Vol.60 (1), p.48-51

1995

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Krit1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Commentary

Neurosurgery, 2004, Vol.54 (4), p.943-949

2004

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COL4A1 Mutation in Preterm Intraventricular Hemorrhage

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

Susceptibility loci for intracranial aneurysm in European and Japanese populations

Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21

Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III

Familial cortical myoclonus with a mutation in NOL3

Determinants of erythrocyte hydration

Bartter syndrome and focal segmental glomerulosclerosis : a possible link between two diseases

Clinical and Genetic Correlates of Serum Aldosterone in the Community: The Framingham Heart Study

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

Finding genes that cause human hypertension

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Low peripheral plasma renin activity as a critical marker in pediatric hypertension

Glucocorticoid-remediable aldosteronism (GRA): Diagnosis, variability of phenotype and regulation of potassium homeostasis

Krit1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Commentary

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