Search Results - "Pyatt RE"

Troponin I – a comprehensive review of its function, structure, evolution, and role in muscle diseases.

Authors: Han, Dongju Lim, Younghyun Lee, Soah et al.

Source: Animal Cells & Systems. Dec2025, Vol. 29 Issue 1, p446-468. 23p.

A Fetus with 17q23.1-q23.2 Microdeletion Presents with Primary Bilateral Lung Hypoplasia in Utero.

Authors: Yao, Longmei Xu, Yan Deng, Yan et al.

Source: Fetal & Pediatric Pathology. Feb2023, Vol. 42 Issue 1, p144-148. 5p.

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Authors: Patel, Jignesh K. Rosen, Andrew M. Chamberlin, Adam et al.

Source: Neurology & Therapy. Dec2022, Vol. 11 Issue 4, p1595-1607. 13p.

The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.

Authors: KILIÇ, Mehmet Akif KÜREKÇİ, Fulya KİPOĞLU, Osman et al.

Source: Turkish Journal of Medical Sciences. 2025, Vol. 55 Issue 3, p702-709. 8p.

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

Authors: Dória, Sofia Alves, Daniela Pinho, Maria João et al.

Source: BMC Medical Genomics. 1/3/2020, Vol. 13 Issue 1, p1-6. 6p.

Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.

Authors: Papadopulos, M. E. Plazzer, J. P. Macrae, F. A.

Source: Hereditary Cancer in Clinical Practice. 7/3/2023, Vol. 21 Issue 1, p1-10. 10p.

Insights into genetic modifiers of breast cancer risk in carriers of BRCA1 and BRCA2 pathogenic variants.

Authors: Dwornik, Roksana Białkowska, Katarzyna

Source: Hereditary Cancer in Clinical Practice. 4/28/2025, Vol. 23 Issue 1, p1-11. 11p.

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.

Authors: Kato, Tamaki Yokomura, Mamoru Osawa, Yutaka et al.

Source: Orphanet Journal of Rare Diseases. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p.

Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception.

Alternate Title: Qualidade de vida em pacientes com atrofia muscular espinhal no Brasil: autoavaliação e percepção dos cuidadores.

Authors: Coelho, Maíra Zonta, Marise Bueno Raskin, Salmo et al.

Source: Revista Paulista de Pediatria. 2025, Vol. 43, p1-9. 9p.

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.

Authors: Tolezano, Giovanna Cantini Bastos, Giovanna Civitate da Costa, Silvia Souza et al.

Source: Journal of Autism & Developmental Disorders. Mar2024, Vol. 54 Issue 3, p1181-1212. 32p.

Subjects: Microcephaly, Genetic variation, Sex chromosomes, Microarray technology, Neural development, Genes, Genomics, Research funding, Rare diseases, Longitudinal method

Geographic Terms: Brazil

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.

Authors: GAULD, Christophe POISSON, Alice REVERSAT, Julie et al.

Source: BMC Psychiatry. 7/17/2021, Vol. 21 Issue 1, p1-11. 11p. 1 Color Photograph, 1 Diagram, 2 Charts.

Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons.

Authors: Sansa, Alba Hidalgo, Ivan Miralles, Maria P. et al.

Source: Acta Neuropathologica Communications. 7/3/2021, Vol. 9 Issue 1, p1-15. 15p.

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SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome.

Authors: Cao, Kimberley Plazzer, John-Paul Macrae, Finlay

Source: Hereditary Cancer in Clinical Practice. 12/8/2023, Vol. 21 Issue 1, p1-64. 64p.

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.

Authors: Mercadante, Francesca Busè, Martina Salzano, Emanuela et al.

Source: Italian Journal of Pediatrics. 7/28/2020, Vol. 46 Issue 1, p1-8. 8p.

4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report.

Authors: Wu, Maolan Zheng, Xiangrong Wang, Xia et al.

Source: BMC Medical Genomics. 3/3/2020, Vol. 13 Issue 1, p1-7. 7p.

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.

Authors: Cioppi, F. Riera‐Escamilla, A. Manilall, A. et al.

Source: Andrology. Jan2019, Vol. 7 Issue 1, p88-101. 14p.

Carrier frequency of spinal muscular atrophy in Turkish population.

Authors: Özdemir, Yeşim Arısoy, Resul Semiz, Altuğ et al.

Source: Perinatal Journal. Apr2022, Vol. 30 Issue 1, p57-60. 4p.

Hmga2 deficiency is associated with allometric growth retardation, infertility, and behavioral abnormalities in mice.

Authors: Mi Ok Lee Jingyi Li Davis, Brian W. et al.

Source: G3: Genes | Genomes | Genetics. Feb2022, Vol. 12 Issue 2, p1-8. 8p.

Teaching next-generation sequencing to medical students with a portable sequencing device.

Authors: Cervantes, Jorge Perry, Cynthia Wang, Min Chih

Source: Perspectives on Medical Education. Aug2021, Vol. 10 Issue 4, p252-255. 4p.