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Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)

International journal of legal medicine, 2021-07, Vol.135 (4), p.1499-1506

2021

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Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

Journal of ovarian research, 2023-04, Vol.16 (1), p.66-66, Article 66

2023

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Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

The EMBO journal, 2001-04, Vol.20 (7), p.1774-1784

2001

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Frameshift variant FANCLc.1096_1099dupATTA is not associated with high breast cancer risk

Clinical genetics, 2016-10, Vol.90 (4), p.385-386

2016

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ATM polymorphisms as risk factors for prostate cancer development

British journal of cancer, 2004-08, Vol.91 (4), p.783-787

2004

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Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region

Clinical genetics, 2012-07, Vol.82 (1), p.100-101

2012

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956: Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations

European journal of cancer (1990), 2014-07, Vol.50, p.S233-S233

2014

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High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus

Clinical genetics, 2010-10, Vol.78 (4), p.364-372

2010

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Lymphatic capillary hypoplasia in the skin of fetuses with increased nuchal translucency and Turner's syndrome: comparison with trisomies and controls

Molecular human reproduction, 2010-10, Vol.16 (10), p.778-789

2010

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CFTR gene mutations and male infertility

Andrologia, 2000-03, Vol.32 (2), p.71-83

2000

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Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

Journal of medical genetics, 2008-01, Vol.45 (1), p.47-54

2008

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Molecular Genetics of Breast and Ovarian Cancer: Recent Advances and Clinical Implications

Balkan journal of medical genetics, 2012-12, Vol.15 (Supplement), p.75-80

2012

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Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

Cancer research (Chicago, Ill.), 2001-10, Vol.61 (20), p.7608-7615

2001

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Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study

PLoS genetics, 2021-04, Vol.17 (4), p.e1009525

2021

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Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

Human genetics, 1997-09, Vol.100 (3-4), p.365-377

1997

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Testis-Specific Protein, Y-Encoded (TSPY) Expression in Testicular Tissues

Human molecular genetics, 1996-11, Vol.5 (11), p.1801-1807

1996

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Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

The American journal of gastroenterology, 2000, Vol.95 (8), p.2061-2067

2000

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Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families

Human molecular genetics, 1999-01, Vol.8 (1), p.69-79

1999

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Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

Journal of medical genetics, 2001-04, Vol.38 (4), p.243-244

2001

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The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing

Russian journal of genetics, 2016-10, Vol.52 (10), p.1105-1109

2016

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Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma

Bone marrow transplantation (Basingstoke), 2016-09, Vol.51 (9), p.1271-1274

2016

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Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

The American journal of gastroenterology, 2000-08, Vol.95 (8), p.2061-2067

2000

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Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer

British journal of cancer, 2001-09, Vol.85 (6), p.850-858

2001

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Interleukin-10 high producer allele and ultrasound-defined periventricular white matter abnormalities in preterm infants: a preliminary study

Neuropediatrics, 2006-06, Vol.37 (3), p.130

2006

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Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines

International journal of radiation biology, 2003-03, Vol.79 (3), p.193-202

2003

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Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)

Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

Frameshift variant FANCLc.1096_1099dupATTA is not associated with high breast cancer risk

ATM polymorphisms as risk factors for prostate cancer development

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region

956: Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus

Lymphatic capillary hypoplasia in the skin of fetuses with increased nuchal translucency and Turner's syndrome: comparison with trisomies and controls

CFTR gene mutations and male infertility

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

Molecular Genetics of Breast and Ovarian Cancer: Recent Advances and Clinical Implications

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

Testis-Specific Protein, Y-Encoded (TSPY) Expression in Testicular Tissues

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families

Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing

Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer

Interleukin-10 high producer allele and ultrasound-defined periventricular white matter abnormalities in preterm infants: a preliminary study

Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines

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