Search Results - "Moizard MP"

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Authors: Civit A Kerbellec L Laurenceau D et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Mar; Vol. 200 (3), pp. 744-748. Date of Electronic Publication: 2025 Nov 13.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Authors: Civit A Ronce N Cogné B et al.

Source: Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 231-233. Date of Electronic Publication: 2024 Nov 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Authors: Malbos M Gautier T Shillington A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Dec; Vol. 33 (12), pp. 1585-1595. Date of Electronic Publication: 2025 Sep 22.

Publication Type: Journal Article

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

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Authors: Jeanne M Vuillaume ML Ung DC et al.

Source: Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 885-896. Date of Electronic Publication: 2021 Jan 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Authors: Vuillaume ML Moizard MP Rossignol S et al.

Source: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2110-2112. Date of Electronic Publication: 2018 Sep 17.

Publication Type: Published Erratum

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: PubMed not MEDLINE

Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.

Authors: Vuillaume ML Moizard MP Rossignol S et al.

Source: Human mutation [Hum Mutat] 2018 Jun; Vol. 39 (6), pp. 790-805. Date of Electronic Publication: 2018 Apr 24.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Authors: Vuillaume ML Moizard MP Hammouche E et al.

Source: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1111-1113. Date of Electronic Publication: 2018 Jan 25.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.

Authors: Jedraszak G Girard M Mellos A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Mar; Vol. 164A (3), pp. 774-7. Date of Electronic Publication: 2013 Dec 19.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.

Authors: Cottereau E Moizard MP David A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Jan; Vol. 164A (1), pp. 282-4. Date of Electronic Publication: 2013 Nov 08.

Publication Type: Letter; Comment

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Authors: Lesca G Moizard MP Bussy G et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3063-71. Date of Electronic Publication: 2013 Aug 16.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Authors: Cottereau E Mortemousque I Moizard MP et al.

Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2013 May; Vol. 163C (2), pp. 92-105. Date of Electronic Publication: 2013 Apr 18.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

Authors: Ronce N Maystadt I Hubert C et al.

Source: Clinical genetics [Clin Genet] 2012 Jul; Vol. 82 (1), pp. 93-6. Date of Electronic Publication: 2011 Dec 30.

Publication Type: Case Reports; Letter

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Twenty-five novel mutations including duplications in the ATP7A gene.

Authors: Moizard MP Ronce N Blesson S et al.

Source: Clinical genetics [Clin Genet] 2011 Mar; Vol. 79 (3), pp. 243-53.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Authors: Ratbi I Elalaoui SC Moizard MP et al.

Source: The Turkish journal of pediatrics [Turk J Pediatr] 2010 Sep-Oct; Vol. 52 (5), pp. 525-8.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Hacettepe University, Institute of Child Health Country of Publication: Turkey NLM ID: 0417505 Publication Model: Print Cited Medium: Print ISSN: 0041-4301 (Print) Linking ISSN: 00414301 NLM ISO Abbreviation: Turk J Pediatr Subsets: MEDLINE

Phenotype and genotype in females with POU3F4 mutations.

Authors: Marlin S Moizard MP David A et al.

Source: Clinical genetics [Clin Genet] 2009 Dec; Vol. 76 (6), pp. 558-63.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Authors: Meloni I Muscettola M Raynaud M et al.

Source: Nature genetics [Nat Genet] 2002 Apr; Vol. 30 (4), pp. 436-40. Date of Electronic Publication: 2002 Mar 11.

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

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Authors: Vuillaume ML Moizard MP Baumer A et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Apr; Vol. 27 (4), pp. 663-668. Date of Electronic Publication: 2019 Jan 25.

Publication Type: Journal Article

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

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.

Authors: Moizard MP Toutain A Fournier D et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Jul; Vol. 8 (7), pp. 552-6.

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 Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

Authors: Raynaud M Moizard MP Dessay B et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2000 Apr; Vol. 8 (4), pp. 253-8.

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 Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Authors: Hu H Haas SA Chelly J et al.

Source: Molecular psychiatry [Mol Psychiatry] 2016 Jan; Vol. 21 (1), pp. 133-48. Date of Electronic Publication: 2015 Feb 03.

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

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE