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Publication : european journal of human genetics

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Academic Journal

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Authors : Robertson, Stephen P¹ ; Thompson, Sarah¹; Morgan, Timothy¹

Source: European Journal of Human Genetics. May2006, Vol. 14 Issue 5, p549-554. 6p. 3 Color Photographs, 1 Diagram, 2 Graphs.

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Academic Journal

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

Authors : Elsayed, Fadwa A¹; Kets, C Marleen²; Ruano, Dina¹

Source: European Journal of Human Genetics. Aug2015, Vol. 23 Issue 8, p1080-1084. 5p.

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Academic Journal

Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.

Authors : Potjer, Thomas P¹; Kranenburg, Heidi E²; Bergman, Wilma³

Source: European Journal of Human Genetics. May2015, Vol. 23 Issue 5, p711-714. 4p.

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Academic Journal

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Authors : Döcker, Dennis¹; Schubach, Max²; Menzel, Moritz²

Source: European Journal of Human Genetics. Mar2015, Vol. 23 Issue 3, p409-412. 4p.

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Academic Journal

An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

Authors : Venâncio, Margarida¹; Santos, Mónica²; Pereira, Susana Aires³

Source: European Journal of Human Genetics. Aug2007, Vol. 15 Issue 8, p902-904. 3p.

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Academic Journal

Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.

Authors : Aury-Landas, Juliette¹; Bougeard, Gaëlle¹; Castel, Hélène²

Source: European Journal of Human Genetics. Dec2013, Vol. 21 Issue 12, p1369-1376. 8p.

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Academic Journal

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Authors : Bourdeaut, Franck¹; Ferrand, Sandrine²; Brugières, Laurence³

Source: European Journal of Human Genetics. Mar2012, Vol. 20 Issue 3, p291-297. 7p. 2 Diagrams, 3 Charts, 2 Graphs.

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Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Authors : Mester, Jessica L.¹; Tilot, Amanda K.²; Rybicki, Lisa A.³

Source: European Journal of Human Genetics. Jul2011, Vol. 19 Issue 7, p763-768. 6p. 3 Charts, 3 Graphs.

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Academic Journal

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.

Authors : Siltanen, Sanna^1,2; Syrjäkoski, Kirsi^1,2; Fagerholm, Rainer³

Source: European Journal of Human Genetics. Aug2008, Vol. 16 Issue 8, p983-991. 9p. 2 Diagrams, 3 Charts.

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Academic Journal

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Authors : Béri-Dexheimer, Mylène¹; Latger-Cannard, Véronique²; Philippe, Christophe¹

Source: European Journal of Human Genetics. Aug2008, Vol. 16 Issue 8, p1014-1018. 5p. 1 Black and White Photograph, 1 Diagram, 1 Graph.

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نتائج البحث

فلترة النتائج

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

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