Search Results

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

• Authors : Béroud C; Institut Cochin and Laboratory of Molecular Genetics, Cochin Hospital, Paris, France.; Carrié A

Subjects: Dystrophin/Dystrophin/Dystrophin/*deficiency ; Exons/Exons/Exons/*genetics ; Introns/Introns/Introns/*genetics

• Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2004 Jan; Vol. 14 (1), pp. 10-8.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print Cited Medium: Print ISSN: 0960-8966 (Print)

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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 V; Laboratoire de Diagnostic Génétique, Strasbourg, France. ; Beldjord C

Subjects: Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data ; Genetic Testing/Genetic Testing/Genetic Testing/*trends

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2004 Sep 01; Vol. 129A (3), pp. 218-24.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825

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Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

• Authors : de Brouwer AP; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. ; Yntema HG

Subjects: Mutation*; Mental Retardation, X-Linked/Mental Retardation, X-Linked/Mental Retardation, X-Linked/*genetics; Cohort Studies

• Source: Human mutation [Hum Mutat] 2007 Feb; Vol. 28 (2), pp. 207-8.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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

• Authors : Poirier K; Institut Cochin, INSERM U567, UMR 8104, Université René Descartes, Paris V, France.; Eisermann M

Subjects: Mutation*; Homeodomain Proteins/Homeodomain Proteins/Homeodomain Proteins/*genetics ; Movement Disorders/Movement Disorders/Movement Disorders/*genetics

• Source: Epilepsy research [Epilepsy Res] 2008 Aug; Vol. 80 (2-3), pp. 224-8. Date of Electronic Publication: 2008 May 12.Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Print

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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 SG; Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands. ; Lenzner S

Subjects: Mental Retardation, X-Linked/Mental Retardation, X-Linked/Mental Retardation, X-Linked/*genetics ; Monocarboxylic Acid Transporters/Monocarboxylic Acid Transporters/Monocarboxylic Acid Transporters/*deficiency ; Monocarboxylic Acid Transporters/Monocarboxylic Acid Transporters/Monocarboxylic Acid Transporters/*genetics

• Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2008 Sep; Vol. 16 (9), pp. 1029-37. Date of Electronic Publication: 2008 Apr 09.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

• Authors : Saillour Y; Conseil National de la Recherche Scientifique, Université Paris Descartes (Unités Mixtes de Recherche 8104) and Institut National de la Santé et de la Recherche Médicale (INSERM) U567, Paris, France.; Carion N

Subjects: DNA Mutational Analysis* ; Genotype* ; Magnetic Resonance Imaging*

• Source: Archives of neurology [Arch Neurol] 2009 Aug; Vol. 66 (8), pp. 1007-15.Publisher: American Medical Assn Country of Publication: United States NLM ID: 0372436 Publication Model: Print Cited Medium: Internet ISSN:

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