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Cloning and characterization of the human V3 pituitary vasopressin receptor

• Authors : de Keyzer, Yves; Auzan, Colette; Lenne, Frédéric

• Source: FEBS Letters; December 1994, Vol. 356 Issue: 2-3 p215-220, 6p

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Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1

• Authors : Carrié, Alain; Nepotes, Virginie; Billuart, Pierre

• Source: American Journal of Medical Genetics. Part A; 30 July 1999, Vol. 85 Issue: 3 p252-254, 3p

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X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium

• Authors : Portes, Vincent des; Beldjord, Chérif; Chelly, Jamel

• Source: American Journal of Medical Genetics. Part A; 30 July 1999, Vol. 85 Issue: 3 p263-265, 3p

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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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A T to G mutation in the polypyrimidine tract of the second intron of the human {beta}-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; September 1995, Vol. 23 Issue: 17 p3419-3419, 1p

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

• Authors : Degos, Bertrand^1,2,3,4,5,6 ; Toussaint, Aurélie^1,2,3,4,5,6; Lesage, Suzanne^1,2,3,4,5,6

Subjects: *FILAMINS; *SERINE/THREONINE kinases; *GENETIC mutation

• Source: Parkinsonism & Related Disorders. May2016, Vol. 26, p78-80. 3p.

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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

• Authors : Béroud, Christophe¹; Carrié, Alain²; Beldjord, Chérif¹

Subjects: *DYSTROPHIN; *GENETIC transcription; *GENES

• Source: Neuromuscular Disorders. Jan2004, Vol. 14 Issue 1, p10. 9p.

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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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Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1.

• Authors : Algalarrondo, Vincent^1,2; Wahbi, Karim^3,4; Sebag, Frédéric¹

Subjects: *SODIUM; *ELECTRIC properties of hearts; *CARDIAC contraction

• Source: Neuromuscular Disorders. Apr2015, Vol. 25 Issue 4, p308-320. 13p.

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Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

• Authors : Poirier K; Institut Cochin, Université Paris Descartes, Centre national de la recherche scientifique Unité Mixte de Recherche 8104, Paris, France.; Keays DA

Subjects: Mutation, Missense*; Brain/Brain/Brain/*abnormalities ; Brain Diseases/Brain Diseases/Brain Diseases/*genetics

• Source: Human mutation [Hum Mutat] 2007 Nov; Vol. 28 (11), pp. 1055-64.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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