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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Bilateral Frontoparietal Polymicrogyria.

• Authors : Jain, Puneet; Sharma, Suvasini; Bahi-Buisson, Nadia

• Source: Indian Journal of Pediatrics; Apr2015, Vol. 82 Issue 4, p390-391, 2p

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Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy

• Authors : Poirier, Karine¹; Eisermann, Monika²; Caubel, Isabelle³

Subjects: *INFANTILE spasms; *SEIZURES (Medicine); *MOVEMENT disorders

• Source: Epilepsy Research. Aug2008, Vol. 80 Issue 2/3, p224-228. 5p.

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PINK1 and FLNA mutations association: A role for atypical parkinsonism?

• Authors : Degos B; Département des Maladies du Système Nerveux, Centre Inter-Régional de Coordination de la Maladie de Parkinson, Hôpital Pitié-Salpêtrière, APHP, Paris, 75013, France. Electronic address: .; Toussaint A

Subjects: Filamins/Filamins/Filamins/*genetics ; Mutation/Mutation/Mutation/*genetics ; Parkinson Disease/Parkinson Disease/Parkinson Disease/*diagnosis Parkinson Disease, Familial, Type 1

• Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2016 May; Vol. 26, pp. 78-80. Date of Electronic Publication: 2016 Mar 02.Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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