Search Results - "Moerman, Alexandre"

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Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.

Authors: Barbotin, Anne-Laure Boursier, Angèle Jourdain, Anne-Sophie et al.

Source: Journal of Assisted Reproduction & Genetics. Jun2024, Vol. 41 Issue 6, p1499-1505. 7p.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Authors: Mercier, Sandra Toutain, Annick Toussaint, Aurélie et al.

Source: European Journal of Human Genetics. Aug2013, Vol. 21 Issue 8, p855-863. 9p. 1 Color Photograph, 2 Diagrams, 2 Charts, 1 Graph.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.

Authors: Dodé, Catherine Teixeira, Luis Levilliers, Jacqueline et al.

Source: PLoS Genetics. Oct2006, Vol. 3 Issue 4, p1648-1652. 5p.

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Authors: Joncquel-Chevalier Curt, Marie Bout, Marie-Adélaïde Fontaine, Monique et al.

Source: Molecular Genetics & Metabolism. Apr2018, Vol. 123 Issue 4, p463-471. 9p.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

Authors: Bordet, Céline Brice, Sandrine Maupain, Carole et al.

Source: Journal of Clinical Medicine. May2020, Vol. 9 Issue 5, p1365-1365. 1p.

Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.

Authors: Espiard, Stéphanie Do Cao, Christine Ladsous, Miriam et al.

Source: Orphanet Journal of Rare Diseases. 2/13/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.

Authors: Boursier, Angèle Boudry, Augustin Mitchell, Valérie et al.

Source: Reproductive BioMedicine Online (Elsevier Science). Nov2023, Vol. 47 Issue 5, pN.PAG-N.PAG. 1p.

Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.

Authors: Petit, Florence Cuisset, Jean-Marie Rouaix-Emery, Nathalie et al.

Source: Muscle & Nerve. Jan2011, Vol. 43 Issue 1, p26-30. 5p.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Authors: Biancalana V Scheidecker S Miguet M et al.

Source: Acta neuropathologica [Acta Neuropathol] 2017 Dec; Vol. 134 (6), pp. 889-904. Date of Electronic Publication: 2017 Jul 06.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Authors: El Khattabi L Guimiot F Pipiras E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Aug; Vol. 23 (8), pp. 1010-8. Date of Electronic Publication: 2014 Nov 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors: Jacquemont S Reymond A Zufferey F et al.

Source: Nature [Nature] 2011 Aug 31; Vol. 478 (7367), pp. 97-102. Date of Electronic Publication: 2011 Aug 31.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.

Authors: Dieux-Coëslier A Moerman A Holder M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2004 Jan 01; Vol. 124A (1), pp. 60-6.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE