样式: 排序: IF: - GO 导出 标记为已读
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Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-16 Huihui Yang, Lanfen He, Hongjian Gong, Chunhui Wan, Juanjuan Ding, Panli Liao, Xiaowen Wang
BackgroundAlthough proteinuria is long recognized as an independent risk factor for progressive chronic kidney diseases, not all forms of proteinuria are detrimental to kidney function, one of which is isolated proteinuria caused by cubilin (CUBN)‐specific mutations. CUBN encodes an endocytic receptor, initially found to be responsible for the Imerslund–Gräsbeck syndrome (IGS; OMIM #261100) characterized
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Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-16 Jianing Niu, Xiaoming Teng, Junyu Zhang
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Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype—A case report and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-11 Xiaohuan Pi, Qiming Zhang, Xinghua Wang, Fagang Jiang
BackgroundRetinoblastoma (Rb) is the most common intraocular malignancy in childhood, originating from primitive retinal stem cells or cone precursor cells. It can be triggered by mutations of the RB1 gene or amplification of the MYCN gene. Rb may rarely present with polydactyly.MethodsWe conducted karyotype analysis, copy number variation sequencing, and whole‐genome sequencing on the infant proband
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ABCG2 polymorphisms and susceptibility to ARV-associated hepatotoxicity Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-07 HariOm Singh, Kishore Dhotre, Shyamveer, Ranjana Choudhari, Amita Verma, Supriya D. Mahajan, Nemat Ali
The ABCG2 421C/A polymorphism contributes significantly to the distribution and absorption of antiretroviral (ARV) regimens and is associated with the undesirable side effects of efavirenz.
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Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-06 Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li
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Okur‐Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-06 Haitian Nan, Min Chu, Jing Zhang, Deming Jiang, Yihao Wang, Liyong Wu
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Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B) Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-06 Qing‐bing He, Cai‐hong Wu, Dong‐lan Sun, Jia‐yu Yuan, Hua‐ying Hu, Kai Yang, Wen‐qi Chen, You‐sheng Yan, Guang‐yue Yin, Jing Zhang, Ya‐zhou Li
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Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-05 Linli Liu, Yanbo Wang, Zhengzhong Zhang, Chunshui Yu, Jin Chen
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Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-05 Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang
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Major depressive disorder and the risk of irritable bowel syndrome: A Mendelian randomization study Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-05 Ruiming Zhu, Nan Zhang, He Zhu, Fudong Li, Hong Xu
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A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-04 Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee
BackgroundFamilial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant or homozygous/compound heterozygous variants and those with biallelic pathogenic variants present more severe symptoms.MethodWe report an Egyptian
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Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-04 Xiao‐Liang Xing, Ziqiang Zeng, Yana Wang, Bo Pan, Xueshuang Huang
BackgroundHemifacial macrosomia (HFM, OMIM 164210) is a complex and highly heterogeneous disease. FORKHEAD BOX I3 (FOXI3) is a susceptibility gene for HFM, and mice with loss of function of Foxi3 did exhibit a phenotype similar to craniofacial dysmorphism. However, the specific pathogenesis of HFM caused by FOXI3 deficiency remains unclear till now.MethodIn this study, we first constructed a Foxi3
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Genetic diagnosis of Alport syndrome in 16 Chinese families Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-04 Tangli Xiao, Jun Zhang, Li Liu, Bo Zhang
BackgroundAlport syndrome (AS) is a genetically heterogeneous disorder resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. The genetic diagnosis of AS is very important to make precise diagnosis and achieve optimal outcomes.MethodsIn this study, 16 Chinese families with suspected AS were recruited after pedigree analysis, and the clinical presentations were analyzed by a nephrologist
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A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-29 Xiuli Ma, Liping Zhao, Li Li, Xia Li, Chaohong Ding, Jing Ma
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Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-26 Ryan J. German, Blake Vuocolo, Liesbeth Vossaert, Nichole Owen, Richard A. Lewis, Lisa Saba, , Michael F. Wangler, Sandesh Nagamani
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A novel gain‐of‐function STAT3 variant in infantile‐onset diabetes associated with multiorgan autoimmunity Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-26 Qiaoli Zhou, Dandan Chen, Jing Yu, Bixia Zheng, Wei Zhou, Zhanjun Jia, Aihua Zhang, Wei Gu
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Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-26 Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo
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Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-24 Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
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A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-24 Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim
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Type 1 early infantile epileptic encephalopathy: A case report and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-24 Erfan Zaker, Negar Nouri, Mojtaba Movahedinia, Ali Dadbinpour, Mohammad Yahya Vahidi Mehrjardi
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Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-17 Candice Cornelis, Aad Tibben, Eva Brilstra, Ineke Bolt, Marieke van Summeren, Nine Knoers, Annelien L. Bredenoord
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Retraction: Forensic applications and genetic characterization of Liaoning Han opulation revealed by extended set of autosomal STRs Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-14
Du, J., Diao, Y., Rakha, A., Ameen, F., AlKahtani, M. D. F., Adnan, A. (2020). Forensic applications and genetic characterization of Liaoning Han population revealed by extended set of autosomal STRs. Molecular Genetics & Genomic Medicine, 8(12), e1517. https://doi.org/10.1002/mgg3.1517.
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Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-14 Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto
Rauch–Steindl syndrome (RAUST) is a very rare genetic syndrome caused by a pathogenic variant in NSD2 on chromosome 4p16.3. Although NSD2 was previously thought to be the major gene in Wolf–Hirschhorn syndrome (WHS), a contiguous gene syndrome of chromosome 4p16.3 deletion, RAUST has been found to present different facial and clinical features from WHS. In this study, we report the details of two newly
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A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-13 Suyang Wang, Yi-Ming Zhu, ChenYang Xu, Wenjuan Ding, Hui Jia, Panpan Bian, Baicheng Xu, Yufen Guo, Xiaowen Liu
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Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-13 Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González-Álvarez, Stefan T. Arold, Wafaa Eyaid
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Antenatal description of large 4q13.2q21.23 deletion and outcomes Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-13 Anna-Gaëlle Giguet-Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie-Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype–phenotype correlation is a challenging task
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Associations of genetic variants within TYK2 with pulmonary tuberculosis among Chinese population Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-09 Mingwu Zhang, Zhengwei Liu, Yelei Zhu, Kunyang Wu, Lin Zhou, Ying Peng, Junhang Pan, Bin Chen, Xiaomeng Wang, Songhua Chen
Pulmonary tuberculosis (PTB) is a common infectious disease caused by mycobacterium tuberculosis (MTB) and the present study aims to explore the associations of genetic variants within tyrosine kinases 2 (TYK2) with PTB incidence.
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Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-09 Danyue He, Xiaonan Liu, Tianyu Yao, Jie Hu, Xiaodong Zheng, Lili Tang, Xing Fan
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Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-09 Yuting Lou, Xinglei Shi, Guofa Su, Yufan Guo, Liuyan Gao, Ye Wang, Pu Miao, Jianhua Feng
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Retraction: Haplotype diversity and phylogenetic characteristics for Guanzhong Han population from Northwest China via 38 Y-STRs using Yfiler™ Platinum Amplification System Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Li L.,Yao L., He Xin., Gong H., Deng Y., Luan M., He G., Jia F., Chen P. (2020). Haplotype diversity and phylogenetic characteristics for Guanzhong Han population from Northwest China via 38 Y-STRs using Yfiler™ Platinum Amplification System. Molecular Genetics & Genomic Medicine, 8(8), e1187. https://doi.org/10.1002/mgg3.1187
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Retraction: Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Li L., Zou X., Zhang G., Wang H., Su Y., Wang M., He G. (2020). Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East Asians. Molecular Genetics & Genomic Medicine, 8(5), e1209. https://doi.org/10.1002/mgg3.1209
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Retraction: Forensic features and genetic background exploration of a new 47-autosomal InDel panel in five representative Han populations residing in Northern China Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Song F., Lang M., Li L., Luo H., Hou Y. (2020). Forensic features and genetic background exploration of a new 47-autosomal InDel panel in five representative Han populations residing in Northern China. Molecular Genetics & Genomic Medicine, 8(5), e1224. https://doi.org/10.1002/mgg3.1224.
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Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-09 Maria Helena Vaisbich, Antônio César Paulillo de Cillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino de Carvalho, Juliana M. C. M. de Almeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. da Silva, Paula Frassinetti V. de Medeiros, Pedro Henrique Mendes
Disease-related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations. Conventional therapy (oral phosphate and calcitriol) improves some symptoms, but evidence show that it is
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Retracted: MtDNA polymorphism analyses in the Chinese Mongolian group: Efficiency evaluation and further matrilineal genetic structure exploration Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Qiong Lan, Tong Xie, Xiaoye Jin, Yating Fang, Shuyan Mei, Guang Yang, Bofeng Zhu. MtDNA polymorphism analyses in the Chinese Mongolian group: Efficiency evaluation and further matrilineal genetic structure exploration. Molec Genet Genom Med 7:e934, 2019 (https://doi.org/10.1002/mgg3.934).
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Retraction: Population genetics of 24 Y-STR loci in Chinese Han population from Jilin Province, Northeast China Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Xu X-m., Zheng J-L., Lou Y., Wei X-h., Wang B-j.,Yao J. (2019). Population genetics of 24 Y-STR loci in Chinese Han population from Jilin Province, Northeast China. Molecular Genetics & Genomic Medicine, 7(11), e984. https://doi.org/10.1002/mgg3.984
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Retraction: An innovative panel containing a set of insertion/deletion loci for individual identification and its forensic efficiency evaluations in Chinese Hui ethnic minority Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Cui W., Jin X., Guo Y., Chen C., Zhang W., Kong T., Meng H., Zhu B. (2020). An innovative panel containing a set of insertion/deletion loci for individual identification and its forensic efficiency evaluations in Chinese Hui ethnic minority. Molecular Genetics & Genomic Medicine, 8(2), e1074. https://doi.org/10.1002/mgg3.1074
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Retraction: Genetic polymorphism and phylogenetic analyses of 21 non-CODIS STR loci in a Chinese Han population from Shanghai Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Zhou Z., Shao C., Xie J., Xu H., Liu Y., Zhou Y., Liu Z., Zhao Z., Tang Q., Sun K. (2020). Genetic polymorphism and phylogenetic analyses of 21 non-CODIS STR loci in a Chinese Han population from Shanghai. Molecular Genetics & Genomic Medicine, 8(2), e1083. https://doi.org/10.1002/mgg3.1083
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Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-09 Jian Zha, Yong Chen, Fangfang Cao, Yuxin Xu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Huaping Wu, Jianmin Zhong
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Retraction: Genetic diversity and phylogenetic structure of four Tibeto-Burman-speaking populations in Tibetan-Yi corridor revealed by insertion/deletion polymorphisms Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Zou X., He G., Wang M., Huo L., Chen X., Liu J., Wang S., Ye Z., Wang F., Wang Z., Hou Y. (2020). Genetic diversity and phylogenetic structure of four Tibeto-Burman-speaking populations in Tibetan-Yi corridor revealed by insertion/deletion polymorphisms. Molecular Genetics & Genomic Medicine, 8(4), e1140. https://doi.org/10.1002/mgg3.1140
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Retraction: Comprehensive genetic structure analysis of Han population from Dalian City revealed by 20 Y-STRs Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Adnan A., Kasimu K., Rakha A., He G., Yang T., Wang C-C., Lu J., Xuan J-f. (2020). Comprehensive genetic structure analysis of Han population from Dalian City revealed by 20 Y-STRs. Molecular Genetics & Genomic Medicine, 8(3), e1149. https://doi.org/10.1002/mgg3.1149
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Retraction: Evaluation of a six-dye multiplex composed of 27 markers for forensic analysis and databasing Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Wang, S., Song, F., Xie, M., Zhang, K., Xie, B., Huang, Z., Luo, H. Evaluation of a six-dye multiplex composed of 27 markers for forensic analysis and databasing. Molecular Genetics & Genomic Medicine, 8(9), e1419. https://doi.org/10.1002/mgg3.1419.
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Retraction: Forensic characteristics and phylogenetic analyses of one branch of Tai-Kadai language-speaking Hainan Hlai (Ha Hlai) via 23 autosomal STRs included in the Huaxia™ Platinum System Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Li, W., Wang, X., Wang, X., Wang, F., Du, Z., Fu, F., Wu, W., Wang, S., Mu, Z., Chen, C., Hu, X., Ding, J., Meng, Y., Qiu, P., Fan, H. (2020). Forensic characteristics and phylogenetic analyses of one branch of Tai-Kadai language-speaking Hainan Hlai (Ha Hlai) via 23 autosomal STRs included in the Huaxia™ Platinum System. Molecular Genetics & Genomic Medicine, 8(10), e1462. https://doi.org/10.1002/mgg3
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Retraction: Genetic diversity, forensic feature, and phylogenetic analysis of Guizhou Tujia population via 19 X-STRs Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Luo, L., Gao, H., Yao, L., Long, F., Zhang, H., Zhang, L., Liu, Y., Yu, J., Yu, L., Chen, P. (2020). Genetic diversity, forensic feature, and phylogenetic analysis of Guizhou Tujia population via 19 X-STRs. Molecular Genetics & Genomic Medicine, 8(11), e1473. https://doi.org/10.1002/mgg3.1473.
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Retraction: Genetic structure and forensic characterization of 36 Y-chromosomal STR loci in Tibeto-Burman- speaking Yi population Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Song, Z., Wang, Q., Zhang, H., Tang, J., Wang, Q., Zhang, H., Yang, M., Ji, J., Ren, Z., Wu, Y., Huang, J. (2021). Genetic structure and forensic characterization of 36 Y-chromosomal STR loci in Tibeto-Burman-speaking Yi population. Molecular Genetics & Genomic Medicine, 9(2), e1572. https://doi.org/10.1002/mgg3.1572.
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Retraction: Population genetic data from 23 autosomal STR loci of Huaxia Platinum system in the Jining Han population Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Dang Z., Liu Q., Zhang G., Li S., Wang D., Pang Q., Yang D., Li C., Cui W., Wang Y. (2020). Population genetic data from 23 autosomal STR loci of Huaxia Platinum system in the Jining Han population. Molecular Genetics & Genomic Medicine, 8(4), e1142. https://doi.org/10.1002/mgg3.1142
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Retraction: Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-12
Li H., Zhang C., Song G., Ma K., Cao Y., Zhao X., Yang Q., Xie J. (2021). Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population. Molecular Genetics & Genomic Medicine, 9(4), e1626. https://doi.org/10.1002/mgg3.1626.
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The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-05 Huimin Li, Zhan Qi, Limin Xie, Chanjuan Hao, Wei Li
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Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-06 Yi Liu, Yuanyuan Zhang, Jue Wang, Shengnan Song, Huiyan Wang, Qian Meng, Yuan Zhan, Yetao Xu, Lizhou Sun
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A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-06 F.-X. Van Vyve, N. Mercier, J. Papadopoulos, C. Heijmans, H. Dessy, O. Monestier, J. P. Dewulf, D. Roland
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Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case–control study Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-06 Nasrin Pazoki, Mitra Salehi, Seyed Abdolhamid Angaji, Meghdad Abdollahpour-Alitappeh
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A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-02-05 Jian Sun, Nian Yang, Zhengquan Xu, Hongbo Cheng, Xiangxin Zhang
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Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-24 Seung Woo Ryu, Ji-Hee Yoon, Dong-wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Lee
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Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-23 Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
Chromosomal microarray (CMA) is commonly utilized in the obstetrics setting. CMA is recommended when one or more fetal structural abnormalities is identified. CMA is also commonly used to determine genetic etiologies for miscarriages, fetal demise, and confirming positive prenatal cell-free DNA screening results.
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Reasons for failure of noninvasive prenatal test for cell-free fetal DNA in maternal peripheral blood Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-18 Xiangsha Kong, Lin Zhang, Ruifeng Yang, Haiying Zhang, Meihong Ren, Xiang Wang, Ling Zhu, Hongsong Chen, Huiying Rao
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Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-18 Xue Gao, Shuchao Pang, Liangcai Ding, Han Yan, Yinghua Cui, Bo Yan
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Newly discovered variants in unexplained neonatal encephalopathy Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-18 Rong Zhang, Jingjing Xie, Xiao Yuan, Yan Yu, Yan Zhuang, Fan Zhang, Jianfei Hou, Yanqin Liu, Weiqing Huang, Min Zhang, Junshuai Li, Qiang Gong, Xiaoming Peng
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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-18 Ziyang Cao, Xiaoyan He, Dongjuan Wang, Maosheng Gu, Feng Suo, Rong Qiang, Ruixue Zhang, Chengrong Song, Xiaohua Wang, Bo Zhu, Donghua Cao, Haihua Yu, Yiping Qu, Guosong Shen, Jian Wu, Pengpeng Wang, Jinxia Wang, Hongyang Zhang, Zijun Yan, Guangjun Yu, Lin Zou
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Identification and interruption of inheritance of familial cryptic translocations: A case report Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-18 Jian Ou, Jian Sun, Chuan-Chun Yang, Meng-Xia Ni, Qin-Yan Zou, Shi-Yu Xing, Chun-Hua Lin, Qing-Xia Meng, Jie Ding, Ai-Yan Zheng, Yan Zhang, Ling-Yin Kong, Bo Liang, Hong Li
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Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-01-19 Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinimann
Lynch syndrome represents one of the most common cancer predispositions worldwide and is caused by germline pathogenic variants (PV) in DNA mismatch repair (MMR) genes. We repeatedly identified a PV in the MMR gene PMS2, c.1831dup, accounting for 27% of all Swiss PMS2 PV index patients identified. Notably, 2/18 index patients had been diagnosed with colorectal cancer (CRC) before age 30.