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siRNA therapeutics: big potential from small RNAs

Gene therapy, 2005-01, Vol.12 (1), p.5-11

2005

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Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

The European respiratory journal, 2009-11, Vol.34 (5), p.1093-1099

2009

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Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

The New England journal of medicine, 2007-03, Vol.356 (13), p.1317-1326

2007

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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.573-581

2010

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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

Clinical genetics, 2016-10, Vol.90 (4), p.378-382

2016

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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Nature genetics, 2000-09, Vol.26 (1), p.81-84

2000

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Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large Kindred

The New England journal of medicine, 2001-08, Vol.345 (5), p.319-324

2001

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

Nature genetics, 1998-02, Vol.18 (2), p.147-149

1998

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GROWTH HORMONE BLOCKING ANTIBODIES IN A PATIENT WITH DELETION OF THE GH-N GENE

Clinical endocrinology (Oxford), 1987-08, Vol.27 (2), p.213-224

1987

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Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

Molecular cell, 1999, Vol.3 (1), p.1-10

1999

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Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension

Clinical genetics, 2010-03, Vol.77 (3), p.280-286

2010

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Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension

Genetics in medicine, 2005-03, Vol.7 (3), p.169-174

2005

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Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene

The journal of clinical endocrinology and metabolism, 1999-03, Vol.84 (3), p.917-923

1999

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The molecular genetics of growth hormone deficiency

Human genetics, 1998-09, Vol.103 (3), p.255-272

1998

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Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32

Nature genetics, 1997-03, Vol.15 (3), p.277-280

1997

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Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus

The journal of clinical endocrinology and metabolism, 1990-03, Vol.70 (3), p.752-757

1990

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Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

Clinical genetics, 2008-12, Vol.74 (6), p.539-545

2008

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Characterization of an Intron Splice Enhancer that Regulates Alternative Splicing of Human GH Pre-mRNA

Human molecular genetics, 1998-09, Vol.7 (9), p.1491-1496

1998

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Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A

The journal of clinical endocrinology and metabolism, 1984-07, Vol.59 (1), p.34-40

1984

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Synergistic heterozygosity for TGF[beta]1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

Genetics in medicine, 2008-05, Vol.10 (5), p.359-365

2008

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Analysis of growth hormone genes in mice with genetic defects of growth hormone expression

Journal of endocrinology, 1982-03, Vol.92 (3), p.405-407

1982

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Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening

American journal of human genetics, 1996-03, Vol.58 (3), p.617-627

1996

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A centromere-based linkage group on the long arm of human chromosome 17

Cytogenetic and genome research, 1988-01, Vol.47 (1-2), p.109-110

1988

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A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes

Hormone research, 2000-01, Vol.53 (5), p.239-245

2000

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Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu Repeats

Science (American Association for the Advancement of Science), 1990-12, Vol.250 (4988), p.1745-1748

1990

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siRNA therapeutics: big potential from small RNAs

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies

Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large Kindred

Mutations in PROP1 cause familial combined pituitary hormone deficiency

GROWTH HORMONE BLOCKING ANTIBODIES IN A PATIENT WITH DELETION OF THE GH-N GENE

Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene

The molecular genetics of growth hormone deficiency

Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32

Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

Characterization of an Intron Splice Enhancer that Regulates Alternative Splicing of Human GH Pre-mRNA

Phenotypic heterogeneity in familial isolated growth hormone deficiency type I-A

Synergistic heterozygosity for TGF[beta]1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

Analysis of growth hormone genes in mice with genetic defects of growth hormone expression

Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening

A centromere-based linkage group on the long arm of human chromosome 17

A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes

Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu Repeats

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