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Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

Genome research, 2004-07, Vol.14 (7), p.1258

2004

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Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres

Current biology, 1997-11, Vol.7 (11), p.901-904

1997

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X-linked adrenoleukodystrophy : Genes, mutations, and phenotypes

Neurochemical research, 1999, Vol.24 (4), p.521-535

1999

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The Principles of Clinical Cytogenetics, second edition

American journal of human genetics, 2005-03, Vol.76 (3), p.543-543

Stetten, Gail

2005

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Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Mammalian genome, 2000-11, Vol.11 (11), p.1000-1005

2000

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Visualization of centromere proteins CENP-B and CENP-C on a stable dicentric chromosome in cytological spreads

Chromosoma, 1989-06, Vol.98 (1), p.1-12

1989

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TRPC1, a Human Homolog of a Drosophila Store-Operated Channel

Proceedings of the National Academy of Sciences - PNAS, 1995-10, Vol.92 (21), p.9652-9656

1995

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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.160-166

2011

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The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism

Human genetics, 1992-02, Vol.88 (4), p.411-416

1992

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In utero Hematopoietic Stem Cell Transplantation in Canines: Exploring the Gestational Age Window of Opportunity to Maximize Engraftment

Fetal diagnosis and therapy, 2013-01, Vol.33 (2), p.116-121

2013

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X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active X

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.153-162

2008

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Frequency of chromosomal abnormalities in spontaneous abortions derived from intracytoplasmic sperm injection compared with those from in vitro fertilization

Fertility and sterility, 2006, Vol.85 (1), p.236-239

2006

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Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

American journal of medical genetics. Part A, 2008-03, Vol.146A (6), p.764-769

2008

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In utero hematopoietic stem cell transplantation with haploidentical donor adult bone marrow in a canine model

American journal of obstetrics and gynecology, 2004-04, Vol.190 (4), p.960-971

2004

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Nature (London), 1991-07, Vol.352 (6333), p.337-339

1991

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Cloning and Characterization of a Secreted Frizzled-Related Protein that is Expressed by the Retinal Pigment Epithelium

Human molecular genetics, 1999-04, Vol.8 (4), p.575-583

1999

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Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

Prenatal diagnosis, 2007-04, Vol.27 (4), p.373-379

2007

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Prenatal Detection of a Subtle Unbalanced Chromosome Rearrangement by Karyotyping, FISH and Array Comparative Genomic Hybridization

Fetal diagnosis and therapy, 2008-10, Vol.24 (3), p.286-290

2008

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Reevaluating confined placental mosaicism

American journal of medical genetics, 2004-12, Vol.131A (3), p.232-239

2004

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568: Chromosome microarray analysis for prenatal diagnosis - first steps in integration into current practice

American journal of obstetrics and gynecology, 2007, Vol.197 (6), p.S164-S164

2007

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Isolation and characterization of the human gene encoding I to : further diversity by alternative mRNA splicing

American journal of physiology. Heart and circulatory physiology, 1998-12, Vol.275 (6), p.H1963-H1970

1998

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Revised genomic organization of FBN1 and significance for regulated gene expression

Genomics (San Diego, Calif.), 1999-02, Vol.56 (1), p.70-77

1999

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A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

Genomics (San Diego, Calif.), 2005-05, Vol.85 (5), p.622-629

2005

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In utero hematopoietic stem cell transplantation in canines: The gestational window of opportunity to maximize engraftment

American journal of obstetrics and gynecology, 2005-12, Vol.193 (6), p.S18-S18

2005

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Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS

Prenatal diagnosis, 2008-04, Vol.28 (4), p.332-334

2008

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Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres

X-linked adrenoleukodystrophy : Genes, mutations, and phenotypes

The Principles of Clinical Cytogenetics, second edition

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Visualization of centromere proteins CENP-B and CENP-C on a stable dicentric chromosome in cytological spreads

TRPC1, a Human Homolog of a Drosophila Store-Operated Channel

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism

In utero Hematopoietic Stem Cell Transplantation in Canines: Exploring the Gestational Age Window of Opportunity to Maximize Engraftment

X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active X

Frequency of chromosomal abnormalities in spontaneous abortions derived from intracytoplasmic sperm injection compared with those from in vitro fertilization

Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array‐CGH

In utero hematopoietic stem cell transplantation with haploidentical donor adult bone marrow in a canine model

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Cloning and Characterization of a Secreted Frizzled-Related Protein that is Expressed by the Retinal Pigment Epithelium

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

Prenatal Detection of a Subtle Unbalanced Chromosome Rearrangement by Karyotyping, FISH and Array Comparative Genomic Hybridization

Reevaluating confined placental mosaicism

568: Chromosome microarray analysis for prenatal diagnosis - first steps in integration into current practice

Isolation and characterization of the human gene encoding I to : further diversity by alternative mRNA splicing

Revised genomic organization of FBN1 and significance for regulated gene expression

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9

In utero hematopoietic stem cell transplantation in canines: The gestational window of opportunity to maximize engraftment

Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS

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