نتائج البحث

Comparative meta-analysis of transcriptomic studies in spinal muscular atrophy: comparison between tissues and mouse models.

• Authors : Kumar, Shamini Hemandhar^1,2 (AUTHOR); Brandt, Katharina¹ (AUTHOR); Claus, Peter^2,3 (AUTHOR)

• Source: BMC Medical Genomics. 11/12/2024, Vol. 17 Issue 1, p1-15. 15p.

تفاصيل العنوان

Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region

• Authors : Rukhsana Hassan; Gh Rasool Bhat; Feroze Ahmad Mir

Subjects: Spinal muscular atrophy (SMA); Telomere attrition; Telomere length

• Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)

تفاصيل العنوان

Screening of key genes in the pathogenesis of muscle atrophy in CKD-PEW children based on RNA sequencing.

• Authors : Ying, Liang¹ (AUTHOR); Yeping, Jiang¹ (AUTHOR); Hui, Wang¹ (AUTHOR)

• Source: BMC Medical Genomics. 11/28/2023, Vol. 16 Issue 1, p1-9. 9p.

تفاصيل العنوان

Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.

• Authors : Mei Y; Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China.; Jiang Y

Subjects: Cytoplasmic Dyneins*/Cytoplasmic Dyneins*/Cytoplasmic Dyneins*/genetics ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics; Humans

• Source: BMC medical genomics [BMC Med Genomics] 2023 Mar 07; Vol. 16 (1), pp. 47. Date of Electronic Publication: 2023 Mar 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

تفاصيل العنوان

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

• Authors : Kinsinger, Morgan¹ (AUTHOR); Ivanisevic, Jelena² (AUTHOR); Mithal, Divakar S.^1,2 (AUTHOR)

• Source: BMC Medical Genomics. 12/18/2024, Vol. 17 Issue 1, p1-7. 7p.

تفاصيل العنوان

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

• Authors : Ghasemi, Mohammad-Reza^1,2 (AUTHOR); Tehrani Fateh, Sahand³ (AUTHOR); Moeinafshar, Aysan³ (AUTHOR)

• Source: BMC Medical Genomics. 2/13/2024, Vol. 17 Issue 1, p1-28. 28p.

تفاصيل العنوان

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.

• Authors : Wang EH; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, NY, USA.; College of Arts and Sciences, University of Miami, Coral Gables, FL, USA.

Subjects: Intracranial Aneurysm*/Intracranial Aneurysm*/Intracranial Aneurysm*/genetics ; Optic Atrophy*/Optic Atrophy*/Optic Atrophy*/genetics; Female

• Source: BMC medical genomics [BMC Med Genomics] 2024 Apr 19; Vol. 17 (1), pp. 94. Date of Electronic Publication: 2024 Apr 19.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

تفاصيل العنوان

SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.

• Authors : Ishihara, Tomohiko^1,2 (AUTHOR) ; Koyama, Akihide³ (AUTHOR); Atsuta, Naoki⁴ (AUTHOR)

• Source: BMC Medical Genomics. 11/6/2024, Vol. 17 Issue 1, p1-7. 7p.

تفاصيل العنوان

Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province.

• Authors : Huang Z; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China. .; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China. .

Subjects: Gene Deletion* ; Prenatal Diagnosis* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/diagnosis

• Source: BMC medical genomics [BMC Med Genomics] 2023 Mar 01; Vol. 16 (1), pp. 39. Date of Electronic Publication: 2023 Mar 01.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

تفاصيل العنوان

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

• Authors : Yoon JG; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Subjects: X-Linked Intellectual Disability*/X-Linked Intellectual Disability*/X-Linked Intellectual Disability*/genetics; Humans ; Male Allan-Herndon-Dudley syndrome

• Source: BMC medical genomics [BMC Med Genomics] 2025 Mar 03; Vol. 18 (1), pp. 41. Date of Electronic Publication: 2025 Mar 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

تفاصيل العنوان