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Colchicine as a therapeutic option in periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome

Seminars in arthritis and rheumatism, 2016-02, Vol.45 (4), p.471-474

2016

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Evidence-based recommendations for the practical management of Familial Mediterranean Fever

Seminars in arthritis and rheumatism, 2013-12, Vol.43 (3), p.387-391

2013

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A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1913-1917

2021

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A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-01, Vol.153B (1), p.46-56

2010

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Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

American journal of human genetics, 2008-07, Vol.83 (1), p.30-42

2008

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Breast Cancer Risk Following Bilateral Oophorectomy in BRCA1 and BRCA2 Mutation Carriers: An International Case-Control Study

Journal of clinical oncology, 2005-10, Vol.23 (30), p.7491-7496

2005

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Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura

The Journal of pediatrics, 2003-11, Vol.143 (5), p.658-661

2003

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Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

International journal of cancer, 2005-12, Vol.117 (6), p.988-991

2005

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MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA

Rheumatology international, 2010-03, Vol.30 (5), p.633-636

2010

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Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation

Neurology, 2005-11, Vol.65 (9), p.1460-1461

2005

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Smoking and the risk of breast cancer among carriers of BRCA mutations

International journal of cancer, 2004-06, Vol.110 (3), p.413-416

2004

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Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

G3 : genes - genomes - genetics, 2016-05, Vol.6 (5), p.1251-1266

2016

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Familial Clustering of Site-Specific Cancer Risks Associated with BRCA1 and BRCA2 Mutations in the Ashkenazi Jewish Population

Proceedings of the National Academy of Sciences - PNAS, 2006-03, Vol.103 (10), p.3770-3774

2006

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The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

European journal of human genetics : EJHG, 2002-02, Vol.10 (2), p.145-149

2002

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Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

Pediatric neurology, 2014-04, Vol.50 (4), p.421-426

2014

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BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.277-279

2014

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Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Nature genetics, 2000-11, Vol.26 (3), p.273-275

2000

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Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

The New England journal of medicine, 2009-10, Vol.361 (17), p.1651-1661

2009

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Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Journal of hepatology, 2010-02, Vol.52 (2), p.292-295

2010

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Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients

Pediatrics (Evanston), 1999-05, Vol.103 (5), p.e70-e70

1999

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Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

Journal of investigative dermatology, 2006-04, Vol.126 (4), p.777-781

2006

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Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)

American journal of medical genetics. Part A, 2005-10, Vol.138A (3), p.268-271

2005

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Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

Arthritis and rheumatism, 2007-05, Vol.56 (5), p.1706-1712

2007

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The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers

Familial cancer, 2004, Vol.3 (1), p.11-14

2004

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Hormone Therapy and the Risk of Breast Cancer in BRCA1 Mutation Carriers

JNCI : Journal of the National Cancer Institute, 2008-10, Vol.100 (19), p.1361-1367

2008

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Colchicine as a therapeutic option in periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome

Evidence-based recommendations for the practical management of Familial Mediterranean Fever

A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

Breast Cancer Risk Following Bilateral Oophorectomy in BRCA1 and BRCA2 Mutation Carriers: An International Case-Control Study

Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation

Smoking and the risk of breast cancer among carriers of BRCA mutations

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

Familial Clustering of Site-Specific Cancer Risks Associated with BRCA1 and BRCA2 Mutations in the Ashkenazi Jewish Population

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients

Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)

Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers

Hormone Therapy and the Risk of Breast Cancer in BRCA1 Mutation Carriers

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