نتائج البحث

Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation.

• Authors : Sabahizadeh, Amirreza¹ (AUTHOR); Askarinejad, Amir¹ (AUTHOR); AliAkbar, Saranaz Seyed¹ (AUTHOR)

• Source: BMC Medical Genomics. 3/7/2025, Vol. 18 Issue 1, p1-7. 7p.

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Association of CYP19 gene SNPs (rs7176005 and rs6493497) with polycystic ovary syndrome susceptibility in Northern Chinese women.

• Authors : Hao, Ya-li¹ (AUTHOR); Liu, Chun-miao² (AUTHOR); Wang, Na³ (AUTHOR)

• Source: BMC Medical Genomics. 3/10/2025, Vol. 18 Issue 1, p1-6. 6p.

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Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.

• Authors : Geng, Hao^1,2,3 (AUTHOR); Tang, Dongdong^1,2,3 (AUTHOR); Li, Kuokuo^1,2,3 (AUTHOR)

• Source: BMC Medical Genomics. 10/11/2024, Vol. 17 Issue 1, p1-8. 8p.

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Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.

• Authors : Amri Y; Biochemistry Laboratory (LR00SP03), Béchir Hamza Children's Hospital, Bab Saadoun Square, Tunis, 1007, Tunisia. .; Department of Educational Sciences, Higher Institute of Applied Studies in Humanity Le Kef University of Jendouba, Le Kef, Tunisia. .

Subjects: Chediak-Higashi Syndrome*/Chediak-Higashi Syndrome*/Chediak-Higashi Syndrome*/genetics ; Chediak-Higashi Syndrome*/Chediak-Higashi Syndrome*/Chediak-Higashi Syndrome*/pathology ; Mutation*

• Source: BMC medical genomics [BMC Med Genomics] 2025 May 27; Vol. 18 (1), pp. 95. Date of Electronic Publication: 2025 May 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

• Authors : Uwibambe E; Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.; Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Subjects: Exome Sequencing* ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/genetics ; De Lange Syndrome*/De Lange Syndrome*/De Lange Syndrome*/pathology

• Source: BMC medical genomics [BMC Med Genomics] 2025 May 13; Vol. 18 (1), pp. 85. Date of Electronic Publication: 2025 May 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.

• Authors : Zhong, Xue^1,2 (AUTHOR); Zheng, Xuan³ (AUTHOR); Xv, Yinglei^1,2 (AUTHOR)

• Source: BMC Medical Genomics. 6/6/2025, Vol. 18 Issue 1, p1-10. 10p.

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Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome.

• Authors : Hu, Yuanyuan¹ (AUTHOR); Wu, Chao² (AUTHOR); Li, Tuohang³ (AUTHOR)

• Source: BMC Medical Genomics. 9/11/2024, Vol. 17 Issue 1, p1-8. 8p.

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CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

• Authors : Singla, Amika¹ (AUTHOR); Rogers, Carolyn² (AUTHOR); Touma, Mary-Joe¹ (AUTHOR)

• Source: BMC Medical Genomics. 5/30/2025, Vol. 18 Issue 1, p1-11. 11p.

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A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome.

• Authors : Sun, Rongyue^1,2 (AUTHOR); Zhu, Ting² (AUTHOR); Zhou, Tingmin^2,3 (AUTHOR)

• Source: BMC Medical Genomics. 7/18/2025, Vol. 18 Issue 1, p1-15. 15p.

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

• Authors : Yoon, Jihoon G.^1,2 (AUTHOR); Lee, Seungbok^1,3 (AUTHOR); Park, Soojin³ (AUTHOR)

• Source: BMC Medical Genomics. 3/3/2025, Vol. 18 Issue 1, p1-9. 9p.

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