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Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report

• Authors : Angelica Bianco; Luigi Bisceglia; Maria Fara De Caro

Subjects: LHON; Penetrance; Intellectual disability

• Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

• Authors : Truszkowska GT; Laboratory of Molecular Biology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. .; Bilińska ZT

Subjects: Heterozygote* ; Mutation* ; Penetrance*

• Source: BMC medical genetics [BMC Med Genet] 2015 Apr 03; Vol. 16, pp. 21. Date of Electronic Publication: 2015 Apr 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.

• Authors : Hung CC; Graduate Institute of Clinical Genomics, National Taiwan University College of Medicine, Taipei, Taiwan.; Lin SY

Subjects: Penetrance* ; Phenotype*; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2011 May 26; Vol. 12, pp. 76. Date of Electronic Publication: 2011 May 26.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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

• Authors : Niittymäki I; Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.; Tuupanen S

Subjects: Genetic Loci* ; Penetrance*; Allelic Imbalance/Allelic Imbalance/Allelic Imbalance/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2011 Feb 14; Vol. 12, pp. 23. Date of Electronic Publication: 2011 Feb 14.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.

• Authors : Hes FJ; Department of Clinical Genetics, Leiden University Medical Center, POBox 9600, 2300 RC Leiden, The Netherlands. ; Weiss MM

Subjects: Germ-Line Mutation* ; Penetrance*; Paraganglioma/Paraganglioma/Paraganglioma/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2010 Jun 11; Vol. 11, pp. 92. Date of Electronic Publication: 2010 Jun 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.

• Authors : Zühlke C; Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. ; Dalski A

Subjects: Alleles* ; Founder Effect* ; Penetrance*

• Source: BMC medical genetics [BMC Med Genet] 2005 Jul 01; Vol. 6, pp. 27. Date of Electronic Publication: 2005 Jul 01.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss.

• Authors : Yan Bai^1,2; Zhengmin Wang¹ ; Wenjia Dai¹

• Source: BMC Medical Genetics. 2010, Vol. 11, p129-139. 11p.

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Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene

• Authors : Chien-Nan Lee; Chia-Cheng Hung; Shuan-Pei Lin

Subjects: Male; lcsh:Internal medicine; lcsh:QH426-470

• Source: BMC Medical Genetics, Vol 12, Iss 1, p 76 (2011)BMC Medical Genetics

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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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DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy.

• Authors : Heliö K; Heart and Lung Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. .; Kangas-Kontio T

Subjects: Genetic Predisposition to Disease*; Arrhythmogenic Right Ventricular Dysplasia/Arrhythmogenic Right Ventricular Dysplasia/Arrhythmogenic Right Ventricular Dysplasia/*genetics ; Cardiomyopathy, Dilated/Cardiomyopathy, Dilated/Cardiomyopathy, Dilated/*genetics Familial dilated cardiomyopathy

• Source: BMC medical genetics [BMC Med Genet] 2020 Jan 31; Vol. 21 (1), pp. 19. Date of Electronic Publication: 2020 Jan 31.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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