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A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Human mutation, 2001-11, Vol.18 (5), p.460-460

2001

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Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience

Prenatal diagnosis, 2009-05, Vol.29 (5), p.508-513

2009

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Carrier frequency of two BBS2 mutations in the Ashkenazi population

Clinical genetics, 2014-06, Vol.85 (6), p.578-582

2014

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Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis

Human reproduction (Oxford), 2008-01, Vol.23 (1), p.46-53

2008

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A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers

British journal of cancer, 2004-05, Vol.90 (10), p.2002-2005

2004

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Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘ De-Novo ’ TP53 Mutation

Clinical oncology (Royal College of Radiologists (Great Britain)), 2007-09, Vol.19 (7), p.490-493

2007

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Glutathione-S-transferase M1, T1 and P1 polymorphisms, and breast cancer risk, in BRCA1/2 mutation carriers

British journal of cancer, 2008-06, Vol.98 (12), p.2006-2010

2008

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Increased severity over generations of Charcot-Marie-Tooth disease type 1A

Journal of neurology, 2008-06, Vol.255 (6), p.813-819

2008

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Placental Mesenchymal Dysplasia Associated with Transient Neonatal Diabetes Mellitus and Paternal UPD6

Placenta (Eastbourne), 2008-07, Vol.29 (7), p.646-649

2008

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P36.07: Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6

Ultrasound in obstetrics & gynecology, 2008-08, Vol.32 (3), p.438-438

2008

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The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

American journal of human genetics, 2008-10, Vol.83 (4), p.529-534

2008

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CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers

British journal of cancer, 2001-07, Vol.85 (1), p.36-40

2001

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A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis

Human reproduction (Oxford), 1998-07, Vol.13 (7), p.1887-1892

1998

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Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

Human molecular genetics, 2005-12, Vol.14 (24), p.3911-3920

2005

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The Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients with Prostate Cancer

American journal of human genetics, 1999-09, Vol.65 (3), p.921-924

1999

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Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

American journal of human genetics, 1998-10, Vol.63 (4), p.1224-1227

1998

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Preimplantation exclusion of embryos at risk for prion diseases

Neurology, 2006-02, Vol.66 (4), p.607-608

2006

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A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online

Human mutation, 1999, Vol.13 (4), p.337-337

1999

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Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations

Journal of medical genetics, 2007-07, Vol.44 (7), p.467-471

2007

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Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

American journal of human genetics, 1992-11, Vol.51 (5), p.951-956

1992

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ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

Genetics in medicine, 2011-10, Vol.13 (10), p.891-894

2011

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Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene

The journal of clinical endocrinology and metabolism, 1996, Vol.81 (1), p.147-149

1996

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Cystic fibrosis mutations in Israeli Arab patients

Human mutation, 1999-12, Vol.14 (6), p.543-543

1999

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Intracytoplasmic sperm injection combined with preimplantation genetic diagnosis for the prevention of recurrent gestational trophoblastic disease

Human reproduction (Oxford), 1997-04, Vol.12 (4), p.805-808

1997

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A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience

Carrier frequency of two BBS2 mutations in the Ashkenazi population

Laser-assisted derivation of human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis

A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers

Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘ De-Novo ’ TP53 Mutation

Glutathione-S-transferase M1, T1 and P1 polymorphisms, and breast cancer risk, in BRCA1/2 mutation carriers

Increased severity over generations of Charcot-Marie-Tooth disease type 1A

Placental Mesenchymal Dysplasia Associated with Transient Neonatal Diabetes Mellitus and Paternal UPD6

P36.07: Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers

A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

The Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients with Prostate Cancer

Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

Preimplantation exclusion of embryos at risk for prion diseases

Prevalence and Evolutionary Origins of the del( GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online

Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene

Cystic fibrosis mutations in Israeli Arab patients

Intracytoplasmic sperm injection combined with preimplantation genetic diagnosis for the prevention of recurrent gestational trophoblastic disease

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