Search Results - "Moizard MP"

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

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

Authors: Chen, Liqing Luo, Xiaoping Wang, Hongling et al.

Source: BMC Medical Genomics. 9/9/2024, Vol. 17 Issue 1, p1-7. 7p.

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.

Authors: Coratti, Giorgia Lenkowicz, Jacopo Norcia, Giulia et al.

Source: PLoS ONE. 7/29/2022, Vol. 17 Issue 7, p1-13. 13p.

Now you see it, now you do not!! - a case report and review of literature of bilateral jugular venous phlebectasia.

Authors: Francis, Marykutty Varughese, Pearl Mary

Source: European Journal of Medical Case Reports. 2024, Vol. 8 Issue 6, p130-135. 6p.

A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.

Authors: Catapano, Francesco Alkharji, Reem Chambers, Darren et al.

Source: Acta Neuropathologica Communications. 5/21/2025, Vol. 13 Issue 1, p1-28. 28p.

Spermine synthase in Snyder-Robinson syndrome and cancer.

Authors: Yerlikaya A; Department of Medical Biology, Faculty of Medicine, Kutahya Health Sciences University, Kutahya, Turkey. azmi.yerlikaya@ksbu.edu.tr.; Department of Medical Genetics, Faculty of Medicine, Kutahya Health Sciences University, Kutahya, Turkey. azmi.yerlikaya@ksbu.edu.tr.

Source: Molecular biology reports [Mol Biol Rep] 2025 Nov 01; Vol. 53 (1), pp. 40. Date of Electronic Publication: 2025 Nov 01.

Publication Type: Journal Article; Review

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

Authors: Guo, Yongbing Zhang, Huijing Fan, Lixin et al.

Source: BMC Pregnancy & Childbirth. 1/17/2022, Vol. 22 Issue 1, p1-5. 5p.

A novel nonsense variant in MED12 associated with malformations in a female fetus.

Authors: Faergeman, Soren Lejsted Becher, Naja Andreasen, Lotte et al.

Source: Clinical Case Reports. Dec2021, Vol. 9 Issue 12, p1-4. 4p.

Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.

Authors: Fujimoto T Mori M Tonosaki M et al.

Source: Molecular neurobiology [Mol Neurobiol] 2025 May; Vol. 62 (5), pp. 6256-6272. Date of Electronic Publication: 2025 Jan 06.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

Authors: Ravel, Jean-Marie Renaud, Mathilde Muller, Jean et al.

Source: Genome Medicine. 5/23/2023, Vol. 15 Issue 1, p1-10. 10p.

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes.

Authors: Nardello, Rosaria Antona, Vincenzo Mangano, Giuseppe Donato et al.

Source: BMC Medical Genomics. 4/8/2021, Vol. 14 Issue 1, p1-5. 5p.

Outcomes and Considerations of Cochlear Implantation in Patients With Incomplete Partition Type-III Malformation: A Scoping Review.

Authors: Vasandani S Kowkuntla S Luo W et al.

Source: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2026 Feb 01; Vol. 47 (2), pp. e182-e192. Date of Electronic Publication: 2025 Dec 08.

Publication Type: Journal Article; Scoping Review

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100961504 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-4505 (Electronic) Linking ISSN: 15317129 NLM ISO Abbreviation: Otol Neurotol Subsets: MEDLINE

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report.

Authors: Schierz, Ingrid Anne Mandy Giuffrè, Mario Cimador, Marcello et al.

Source: Italian Journal of Pediatrics. 2/3/2022, Vol. 48 Issue 1, p1-7. 7p.

Eye and ocular adnexa manifestations of MED12-related disorders.

Authors: Shah, Arth Bapna, Monika Al-Saif, Hind et al.

Source: Ophthalmic Genetics. Feb2022, Vol. 43 Issue 1, p126-129. 4p.

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Authors: Cuinat S Rouaud T Besnard T et al.

Source: Neurogenetics [Neurogenetics] 2026 Jan 08; Vol. 27 (1), pp. 6. Date of Electronic Publication: 2026 Jan 08.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review.

Authors: Leyne E Bouligand J Wagner R et al.

Source: European journal of pediatrics [Eur J Pediatr] 2025 Nov 26; Vol. 184 (12), pp. 798. Date of Electronic Publication: 2025 Nov 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

The Discovery of Mitochondria-Endoplasmic Reticulum Contact Sites (MERCs) as Mitochondria-Associated Membranes (MAMs).

Authors: Makio, Tadashi Simmen, Thomas

Source: Contact (25152564). 7/25/2024, p1-23. 23p.

Brain function distinguishes female carriers and non-carriers of familial risk for autism.

Authors: Eggebrecht, Adam T. Dworetsky, Ally Hawks, Zoë et al.

Source: Molecular Autism. 10/20/2020, Vol. 11 Issue 1, p1-13. 13p.

NEXT GENERATION SEQUENCING APPLICATION IN DUCHENNE MUSCULAR DYSTROPHY (DMD): DIAGNOSTIC EVOLUTION, MUTATION ANALYSIS AND CHALLENGES.

Authors: Hamid, Mashhood Zafar, Muhammad Zubair

Source: Agrobiological Records. Oct-Dec2023, Vol. 14, p30-36. 7p.

The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy.

Authors: Nardes, Flávia Araújo, Alexandra Prufer de Queiroz Campos Ribeiro, Márcia Gonçalves et al.

Source: Annals of Child Neurology. Apr2020, Vol. 28 Issue 2, p57-65. 9p.