Search Results

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.

• Authors : Bouilly, Justine; Beau, Isabelle; Barraud, Sara

• Source: Journal of Clinical Endocrinology & Metabolism; Dec 01, 2016, p4541-4550, 10p, 3 Charts, 2 Graphs

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MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.

• Authors : Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike

Subjects: X-linked intellectual disabilities; GENETIC mutation; THYROID diseases

• Source: European Journal of Human Genetics. Sep2008, Vol. 16 Issue 9, p1029-1037. 9p. 3 Black and White Photographs, 2 Diagrams, 1 Chart, 1 Graph.

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Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

• Authors : Wahbi, Karim; Algalarrondo, Vincent; Bécane, Henri Marc

• Source: Archives of Cardiovascular Diseases; Dec2013, Vol. 106 Issue 12, p635-643, 9p

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Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

• Authors : Marcorelles, Pascale; Laquerrière, Annie; Adde-Michel, Christine

Subjects: LISSENCEPHALY; BRAIN abnormalities; INTELLECTUAL disabilities

• Source: Acta Neuropathologica; Oct2010, Vol. 120 Issue 4, p503-515, 13p, 3 Color Photographs, 4 Charts, 1 Graph

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Sequential assessment of multidrug resistance phenotype and measurement of S-phase fraction as predictive markers of breast cancer response to neoadjuvant chemotherapy.

• Authors : Chevillard, Sylvie; Pouillart, Pierre; Beldjord, Chérif

• Source: Cancer (0008543X); Jan1996, Vol. 77 Issue 2, p292-300, 9p

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A T to G mutation in the polypyrimidine tract of the second intron of the human β-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction.

• Authors : Sébillon, Pascale; Beldjord, Chérif; Kaplan, Jean-Claude

• Source: Nucleic Acids Research; 9/1/1995, Vol. 23 Issue 17, p3419-3425, 7p

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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

• Authors : Attié, Tania; Pelet, Anna; Edery, Patrick

• Source: Human Molecular Genetics; Aug1995, Vol. 4 Issue 8, p1381-1386, 6p

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LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation SeverityMutations in LIS1-Related Isolated Lissencephaly

• Authors : Saillour, Yoann; Carion, Nathalie; Quelin, Chloé

• Source: Archives of Neurology; August 2009, Vol. 66 Issue: 8 p1007-1015, 9p

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Five years of molecular diagnosis of Fragile X syndrome (1997–2001): A collaborative study reporting 95% of the activity in France

• Authors : Biancalana, Valérie; Beldjord, Chérif; Taillandier, Agnès

• Source: American Journal of Medical Genetics. Part A; September 2004, Vol. 129 Issue: 3 p218-224, 7p

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Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)

• Authors : Jemaa, Lamia Ben; Portes, Vincent des; Zemni, Ramzi

• Source: American Journal of Medical Genetics. Part A; 30 July 1999, Vol. 85 Issue: 3 p276-282, 7p

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