نتائج البحث

A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk.

• Authors : Howarth K; Molecular and Population Genetics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. ; Ranta S

Subjects: Chromosomes, Human, Pair 5* ; Genes, APC* ; Loss of Heterozygosity*

• Source: BMC medical genetics [BMC Med Genet] 2009 Jun 10; Vol. 10, pp. 54. Date of Electronic Publication: 2009 Jun 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report.

• Authors : Gunji-Niitsu Y; Divisions of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3, Hongo, Bunkyo-Ku, Tokyo, 113-8431, Japan.; The Study Group of Pneumothorax and Cystic Lung Diseases, 4-8-1 Seta, Setagaya-Ku, Tokyo, 158-0095, Japan.

Subjects: Birt-Hogg-Dube Syndrome/Birt-Hogg-Dube Syndrome/Birt-Hogg-Dube Syndrome/*genetics ; Lung Neoplasms/Lung Neoplasms/Lung Neoplasms/*genetics ; Perivascular Epithelioid Cell Neoplasms/Perivascular Epithelioid Cell Neoplasms/Perivascular Epithelioid Cell Neoplasms/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2016 Nov 21; Vol. 17 (1), pp. 85. Date of Electronic Publication: 2016 Nov 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

• Authors : Katariina Hirvonen; Hannele Laivuori; Jari Lahti ...

Subjects: Male; CHROMATIN; 0301 basic medicine

• Source: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)BMC Medical Genetics

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Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas.

• Authors : Tabernero M; Instituto de Estudios Ciencias de la Salud de Castilla y León (IECSCYL), Soria, Spain. .; Jara-Acevedo M

Subjects: Chromosomes, Human, Pair 22*; Meningeal Neoplasms/Meningeal Neoplasms/Meningeal Neoplasms/*genetics ; Meningioma/Meningioma/Meningioma/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2013 Oct 30; Vol. 14, pp. 114. Date of Electronic Publication: 2013 Oct 30.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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A mutation at IVS1 + 5 of the von Hippel-Lindau gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?: case report.

• Authors : Asakawa T; Department of Otorhinolaryngology-Head and Neck Surgery, Nihon University School of Medicine, Tokyo 173-8610, Japan.; Esumi M

Subjects: Carcinoma, Squamous Cell/Carcinoma, Squamous Cell/Carcinoma, Squamous Cell/*genetics ; Point Mutation/Point Mutation/Point Mutation/*genetics ; Tongue Neoplasms/Tongue Neoplasms/Tongue Neoplasms/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2012 Mar 31; Vol. 13, pp. 23. Date of Electronic Publication: 2012 Mar 31.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p

• Authors : Per Karlsson; Frida Abel; Maria Yhr

Subjects: lcsh:Internal medicine; lcsh:QH426-470; Genetic Linkage

• Source: BMC Medical Genetics, Vol 9, Iss 1, p 108 (2008)BMC Medical Genetics

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A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

• Authors : Sébastien Lévesque; Simon-Pierre Guay; Steven J. Steinberg

Subjects: Male; lcsh:Internal medicine; Peroxisome biogenesis disorders

• Source: BMC Medical GeneticsBMC Medical Genetics, Vol 13, Iss 1, p 72 (2012)

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Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci

• Authors : Jukka-Pekka Mecklin; Heikki Järvinen; Yang Li ...

Subjects: Linkage disequilibrium; VARIANT; Genome-wide association study

• Source: BMC Medical GeneticsBMC Medical Genetics, Vol 12, Iss 1, p 23 (2011)

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Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing.

• Authors : Liu, Fang^1,2 (AUTHOR); Calhoun, Barbara^1,2 (AUTHOR); Alam, Md. Suhail^1,2 (AUTHOR)

• Source: BMC Medical Genetics. 2/27/2020, Vol. 21 Issue 1, p1-6. 6p.

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SNP genotyping to screen for a common deletion in CHARGE Syndrome

• Authors : William J. Craigen; Jeffrey A. Towbin; Carlos A. Bacino

Subjects: Adult; Genetic Markers; Heart Defects, Congenital

• Source: BMC Medical Genetics, Vol 6, Iss 1, p 8 (2005)BMC Medical Genetics

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