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Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Clinical genetics, 2013-01, Vol.83 (1), p.23-30

2013

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Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

Hepatology (Baltimore, Md.), 1999-03, Vol.29 (3), p.822-829

1999

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Consequences of JAG1 mutations

Journal of medical genetics, 2003-12, Vol.40 (12), p.891-895

2003

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Nature genetics, 1997-07, Vol.16 (3), p.235-242

1997

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The Expression of Jagged1 in the Developing Mammalian Heart Correlates With Cardiovascular Disease in Alagille Syndrome

Human molecular genetics, 1999-12, Vol.8 (13), p.2443-2449

1999

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Alagille Syndrome and the Jagged1 Gene

Seminars in liver disease, 2001-01, Vol.21 (4), p.525-534

2001

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Homozygous deletion of the death receptor DR4 gene in a nasopharyngeal cancer cell line is associated with TRAIL resistance

International journal of oncology, 2000-05, Vol.16 (5), p.917

2000

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Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families

American journal of human genetics, 1998-06, Vol.62 (6), p.1361-1369

1998

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Alagille syndrome

Journal of medical genetics, 1997-02, Vol.34 (2), p.152-157

1997

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Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

Human molecular genetics, 2001-02, Vol.10 (4), p.405-413

2001

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Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

Journal of medical genetics, 2011-01, Vol.48 (1), p.1-9

2011

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CADASIL: Notch signaling defect or protein accumulation problem?

The Journal of clinical investigation, 2000-03, Vol.105 (5), p.561-562

Spinner, N B

2000

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Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells

Clinical immunology (Orlando, Fla.), 2008-08, Vol.128 (2), p.181-189

2008

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Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

Human mutation, 2006-05, Vol.27 (5), p.436-443

2006

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Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

Nature genetics, 1997-09, Vol.17 (1), p.92-95

1997

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KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene

Nature genetics, 1997-10, Vol.17 (2), p.141-143

1997

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Nature genetics, 1997-07, Vol.16 (3), p.243-251

1997

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Fibroblast growth factor homologous factor 2 (FHF2) : gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

Human genetics, 1999-01, Vol.104 (1), p.56-63

1999

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Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene

Genome research, 1997-02, Vol.7 (2), p.128

1997

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Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

Human mutation, 2013-02, Vol.34 (2), p.408-408

2013

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The human osmoregulatory Na +/ myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21

Genomics (San Diego, Calif.), 1995-01, Vol.25 (2), p.507-513

1995

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Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

American journal of human genetics, 1994-10, Vol.55 (4), p.753-759

1994

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Cloning, Human Chromosomal Assignment, and Adipose and Hepatic Expression of the CL-6/INSIG1 Gene

Genomics (San Diego, Calif.), 1997-08, Vol.43 (3), p.278-284

1997

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Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

American journal of human genetics, 2000-07, Vol.67 (1), p.14-22

2000

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GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

Nature genetics, 1998-02, Vol.18 (2), p.188-191

1998

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Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

Consequences of JAG1 mutations

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

The Expression of Jagged1 in the Developing Mammalian Heart Correlates With Cardiovascular Disease in Alagille Syndrome

Alagille Syndrome and the Jagged1 Gene

Homozygous deletion of the death receptor DR4 gene in a nasopharyngeal cancer cell line is associated with TRAIL resistance

Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families

Alagille syndrome

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

CADASIL: Notch signaling defect or protein accumulation problem?

Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Fibroblast growth factor homologous factor 2 (FHF2) : gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene

Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

The human osmoregulatory Na +/ myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

Cloning, Human Chromosomal Assignment, and Adipose and Hepatic Expression of the CL-6/INSIG1 Gene

Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

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