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Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans

American journal of human genetics, 2007-11, Vol.81 (5), p.987-994

2007

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Olfactory copy number association with age at onset of Alzheimer disease

Neurology, 2011-04, Vol.76 (15), p.1302

2011

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Genetic control of X inactivation and processes leading to X-inactivation skewing

American journal of human genetics, 1996-06, Vol.58 (6), p.1101-1108

BELMONT, J. W

1996

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SEMA3E mutation in a patient with CHARGE syndrome

Journal of medical genetics, 2004-07, Vol.41 (7), p.e94-e94

2004

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Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy

Circulation (New York, N.Y.), 2003-11, Vol.108 (21), p.2672-2678

2003

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20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

Journal of medical genetics, 2009-03, Vol.46 (3), p.168-175

2009

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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.75-75, Article 75

2015

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Omphalocele in trisomy 3q: further delineation of phenotype

Clinical genetics, 2003-11, Vol.64 (5), p.404-413

2003

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Cell cycle-dependent expression and nucleolar localization of hCAP-H

Molecular biology of the cell, 2001-11, Vol.12 (11), p.3527-3537

2001

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Supravalvular aortic stenosis : genetic and molecular dissection of a complex mutation in the elastin gene

Human genetics, 2001-11, Vol.109 (5), p.512-520

2001

Volltextzugriff (PDF)

Disruption of the Adenosine Deaminase Gene Causes Hepatocellular Impairment and Perinatal Lethality in Mice

Proceedings of the National Academy of Sciences - PNAS, 1995-04, Vol.92 (9), p.3673-3677

1995

Volltextzugriff (PDF)

Thymic nurse cells are sites of thymocyte apoptosis

The Journal of immunology (1950), 1994-03, Vol.152 (6), p.2645

1994

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A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice

Development (Cambridge), 2002-05, Vol.129 (9), p.2293-2302

2002

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Journal of medical genetics, 2010-05, Vol.47 (5), p.332-341

2010

Volltextzugriff (PDF)

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

American journal of human genetics, 1992-12, Vol.51 (6), p.1229-1239

1992

Volltextzugriff (PDF)

Stromal support enhances cell-free retroviral vector transduction of human bone marrow long-term culture-initiating cells

Blood, 1992-03, Vol.79 (6), p.1393-1399

1992

Volltextzugriff (PDF)

Mexican American ancestry-informative markers: examination of population structure and marker characteristics in european Americans, Mexican Americans, Amerindians and Asians

Human genetics, 2004-02, Vol.114 (3), p.263-271

2004

Volltextzugriff (PDF)

RNA secondary structure analysis of the packaging signal for Moloney murine leukemia virus

Virology (New York, N.Y.), 1991-08, Vol.183 (2), p.611-619

1991

Volltextzugriff (PDF)

A sensitive reporter cell line for HIV-1 tat activity, HIV-1 inhibitors, and T cell activation effects

AIDS research and human retroviruses, 1994-03, Vol.10 (3), p.295-301

1994

Volltextzugriff (PDF)

Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus

Genes and immunity, 2008-06, Vol.9 (4), p.389-393

2008

Volltextzugriff (PDF)

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

Cell, 1993-01, Vol.72 (2), p.279-290

1993

Volltextzugriff (PDF)

Expression of human adenosine deaminase in murine hematopoietic cells

Molecular and Cellular Biology, 1988-12, Vol.8 (12), p.5116-5125

1988

Volltextzugriff (PDF)

Delivery of a secretable adenosine deaminase through microcapsules--a novel approach to somatic gene therapy

Human gene therapy, 1994-12, Vol.5 (12), p.1445-1455

1994

Volltextzugriff (PDF)

Recent progress in the molecular genetics of congenital heart defects

Clinical genetics, 1998-07, Vol.54 (1), p.11-19

Belmont, John W.

1998

Volltextzugriff (PDF)

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

American journal of human genetics, 1994-01, Vol.54 (1), p.25-35

1994

Volltextzugriff (PDF)

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Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans

Olfactory copy number association with age at onset of Alzheimer disease

Genetic control of X inactivation and processes leading to X-inactivation skewing

SEMA3E mutation in a patient with CHARGE syndrome

Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy

20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Omphalocele in trisomy 3q: further delineation of phenotype

Cell cycle-dependent expression and nucleolar localization of hCAP-H

Supravalvular aortic stenosis : genetic and molecular dissection of a complex mutation in the elastin gene

Disruption of the Adenosine Deaminase Gene Causes Hepatocellular Impairment and Perinatal Lethality in Mice

Thymic nurse cells are sites of thymocyte apoptosis

A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

Stromal support enhances cell-free retroviral vector transduction of human bone marrow long-term culture-initiating cells

Mexican American ancestry-informative markers: examination of population structure and marker characteristics in european Americans, Mexican Americans, Amerindians and Asians

RNA secondary structure analysis of the packaging signal for Moloney murine leukemia virus

A sensitive reporter cell line for HIV-1 tat activity, HIV-1 inhibitors, and T cell activation effects

Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

Expression of human adenosine deaminase in murine hematopoietic cells

Delivery of a secretable adenosine deaminase through microcapsules--a novel approach to somatic gene therapy

Recent progress in the molecular genetics of congenital heart defects

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

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