Zobrazeno 1 - 10
of 22
pro vyhledávání: '"35"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Objective To further comprehend the phenotype of multiple mitochondrial dysfunction syndrome type 3 (MMDS3:OMIM#615330) caused by IBA57 mutation. We present a case involving a patient who experienced acute neurological regression, and the li
Externí odkaz:
https://doaj.org/article/b892e55650e34d7c9b19cd8e6df3f216
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause rhizomelic limb shortening with dysmorphic features. Case Report A fet
Externí odkaz:
https://doaj.org/article/0674b30f836f47a7a658ca96185b954a
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic
Externí odkaz:
https://doaj.org/article/64f6efc6da7c429bb3c512439ceea93b
Autor:
Wei Cui, Xiaoye Jin, Yuxin Guo, Chong Chen, Wenqing Zhang, Tingting Kong, Haotian Meng, Bofeng Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Individual identification is one of the most important tasks in the field of forensic genetics. Insertion/Deletion (InDel) polymorphism marker has been a promising marker for individual identification. However, a part of InDel loc
Externí odkaz:
https://doaj.org/article/2c6f429aca3b48ec9acf42bb5ff64885
Autor:
Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods We used the Functional Independence Measure for
Externí odkaz:
https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Autor:
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exo
Externí odkaz:
https://doaj.org/article/79a4b3e89846448e9a3d95301ed8bda3
Autor:
Mohsen Valizadeh, Malihe Aghasizadeh, Fatemeh Shaghi, Ali Moradi, Haleh S. T. Afshari, Reza Zare‐Feyzabadi, Maryam Saberi‐Karimian, Mohammad Hashemi, Fatemeh N. S. Doust, Mohsen Nematy, Ensieh A. Bahre, Seyed H. Aghaei‐Bakhtiari, Hamideh Ghazizadeh, Hamideh Safarian‐Bana, Niloofar Shabani, Habibollah Esmaily, Gordon A. Ferns, Alireza Pasdar, Majid Ghayour‐Mobarhan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Background and Aims The fatty acid‐binding proteins (FABPs) gene polymorphisms are related to several metabolic properties. We investigated the association of SNPs rs2241883 of FABP 1 gene with obesity to evaluate the role of FABP1 gene in
Externí odkaz:
https://doaj.org/article/e118ae63b8db47b29e348b8cc759678d
Autor:
Omnia Elsayed, Aisha Al‐Shamsi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Background Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in >60 genes have been reported to be associated with Hereditary HL (HHL), variants of the GJB2 gene are the m
Externí odkaz:
https://doaj.org/article/135511659cdb463f80c09d4a91fb44aa
Autor:
Junmei Fan, Xueluo Zhang, Yanhua Chen, Junkun Zhang, Lei Zhang, Xingyu Bi, Jinbao Wang, Xiang Huang, Meiqin Yan, Xueqing Wu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Background To investigate the interchromosomal effect (ICE) in chromosome translocation carriers. Methods Data on preimplantation genetic testing aneuploidy and structural rearrangements (translocation) were retrospectively collected and cla
Externí odkaz:
https://doaj.org/article/e05842ea0cc2462993474f9de6a9a160
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Objectives This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal‐inherited mitochondrial progressive external ophthalmoplegia (PEO). Methods Long‐ran
Externí odkaz:
https://doaj.org/article/2e7d8a23f04d4e82b9161c3002b653ff