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Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

Journal of medical genetics, 2006-02, Vol.43 (2), p.e08-e08

2006

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Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

Human molecular genetics, 1994-07, Vol.3 (7), p.1035-1039

1994

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Germline origins in the human F9 gene : frequent G:C→A:T mosaicism and increased mutations with advanced maternal age

Human genetics, 1999-12, Vol.105 (6), p.629-640

1999

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The factor IX gene as a model for analysis of human germline mutations: an update

Human molecular genetics, 1996-01, Vol.5 (Supplement-1), p.1505-1514

1996

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The rates and patterns of deletions in the human factor IX gene

American journal of human genetics, 1994-02, Vol.54 (2), p.201-213

1994

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Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

Prenatal diagnosis, 2000-02, Vol.20 (2), p.144-148

2000

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Germ-line origins of mutation in families with hemophilia B : the sex ratio varies with the type of mutation

American journal of human genetics, 1993, Vol.52 (1), p.152-166

1993

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Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization

Genetics in medicine, 2011-06, Vol.13 (6), p.545-552

2011

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Germline mosaicism in a female who seemed to be a carrier by sequence analysis

Human molecular genetics, 1995-11, Vol.4 (11), p.2181-2182

1995

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Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

Genetics in medicine, 2011-07, Vol.13 (7), p.667-675

2011

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Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb

Genetics in medicine, 2004-11, Vol.6 (6), p.517-520

2004

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The pattern of spontaneous germ-line mutation : relative rates of mutation at or near CpG dinucleotides in the factor IX gene

Human genetics, 1993-06, Vol.91 (5), p.496-503

1993

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Absence of somatic mosaicism in 17 families with hemophilia B : an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels

Human genetics, 1996-11, Vol.98 (5), p.539-545

1996

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A postulated mechanism for deletions with inversions

American journal of human genetics, 1993-05, Vol.52 (5), p.1016-1018

1993

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The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians

American journal of human genetics, 1990-11, Vol.47 (5), p.835-841

1990

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Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

Human genetics, 1990-04, Vol.84 (5), p.387-390

1990

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Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians

Human molecular genetics, 1993-03, Vol.2 (3), p.293-298

1993

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Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Human mutation, 1999, Vol.13 (3), p.221-231

1999

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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

American journal of human genetics, 2003-11, Vol.73 (5), p.1027-1040

2003

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Missense mutations and the magnitude of functional deficit : the example of factor IX

Human genetics, 1992-05, Vol.89 (3), p.295-297

1992

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T296→M, a common mutation causing mild hemophilia B in the amish and others ; founder effect, variability in factor IX activity assays, and rapid carrier detection

Human genetics, 1991-07, Vol.87 (3), p.333-337

1991

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Cryptic dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations

Human genetics, 1994-03, Vol.93 (3), p.357-358

1994

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Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

American journal of human genetics, 1990-08, Vol.47 (2), p.202-217

1990

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Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements

American journal of human genetics, 1991-10, Vol.49 (4), p.820-838

1991

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Preclinical validation of fluorescence in situ hybridization assays for clinical practice

Genetics in medicine, 2006-01, Vol.8 (1), p.16-23

2006

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Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

Germline origins in the human F9 gene : frequent G:C→A:T mosaicism and increased mutations with advanced maternal age

The factor IX gene as a model for analysis of human germline mutations: an update

The rates and patterns of deletions in the human factor IX gene

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

Germ-line origins of mutation in families with hemophilia B : the sex ratio varies with the type of mutation

Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization

Germline mosaicism in a female who seemed to be a carrier by sequence analysis

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb

The pattern of spontaneous germ-line mutation : relative rates of mutation at or near CpG dinucleotides in the factor IX gene

Absence of somatic mosaicism in 17 families with hemophilia B : an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels

A postulated mechanism for deletions with inversions

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Missense mutations and the magnitude of functional deficit : the example of factor IX

T296→M, a common mutation causing mild hemophilia B in the amish and others ; founder effect, variability in factor IX activity assays, and rapid carrier detection

Cryptic dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements

Preclinical validation of fluorescence in situ hybridization assays for clinical practice

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