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Association of a genetic variant in angiopoietin‐like 3 with serum HDL‐C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-18 Malihe Aghasizadeh, Asieh Ahmadi Hoseini, Reza Sahebi, Tooba Kazemi, Parisa Asadiyan‐Sohan, Habibollah Esmaily, Sara Samadi, Amir Avan, Gordon A. Ferns, Saeede Khosravi, Hamideh Ghazizadeh, Ebrahim Miri‐Moghaddam, Majid Ghayour‐Mobarhan
BackgroundLoss‐of‐function (LOF) variants of the angiopoietin‐like 3 (ANGPTL3) gene are reported to be associated with serum triglyceride (TG) and high‐density lipoprotein cholesterol (HDL‐C) concentrations and thereby affect the risk of cardiovascular disease (CVD).ObjectiveIn the present study, we examined the association of rs10789117 in the ANGPTL 3 gene locus and the risk of CVD in the group of
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Malformations of cortical development: Fetal imaging and genetics Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-18 Lin‐Lin Wang, Ping‐Shan Pan, Hui Ma, Chun He, Zai‐Long Qin, Wei He, Jing Huang, Shu‐Yin Tan, Da‐Hua Meng, Hong‐Wei Wei, Ai‐Hua Yin
BackgroundMalformations of cortical development (MCD) are a group of congenital disorders characterized by structural abnormalities in the brain cortex. The clinical manifestations include refractory epilepsy, mental retardation, and cognitive impairment. Genetic factors play a key role in the etiology of MCD. Currently, there is no curative treatment for MCD. Phenotypes such as epilepsy and cerebral
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Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-16 Saeed Ghasemi, Marzieh Mojbafan, Saeed Talebi, Nakysa Hooman, Rozita Hoseini
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Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2 Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-16 Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang
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Reclassification of a spindle cell sarcoma after identification of a TFG‐ROS1 fusion: A case demonstrating the clinical benefit of next‐generation sequencing in sarcoma Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-16 John J. Lim, Eleanor Y. Chen, Stephanie K. Schaub, Michael J. Wagner
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Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-15 Yongli Zhang, Yuwei Zhao, Liying Dai, Yu Liu, Zifeng Shi
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RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-15 Sajjad Biglari, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar, Hamid Reza Khorram Khorshid, Emran Esmaeilzadeh
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Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-13 Wei Tang, Ke‐Mi Wu, Qiong Zhou, Yan‐Fei Tang, Jun‐Fen Fu, Guan‐Ping Dong, Chao‐Chun Zou
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Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2) Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-09 Xuefei Chen, Chaochun Zou
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A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-08 Qiqing Sun, Zhenhua Xie, Lifang Song, Dapeng Fu
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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-08 Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard
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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-06 Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee
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Autism spectrum disorder profiles in RASopathies: A systematic review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-06 Edward Debbaut, Jean Steyaert, Mouna El Bakkali
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Identification and validation of a novel anoikis‐related prognostic model for prostate cancer Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-04 Peipei Zhang, Wenzhi Lv, Yang Luan, Wei Cai, Xiangde Min, Zhaoyan Feng
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Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-02 Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang
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Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2 Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-04-02 Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma
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Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-30 Jianlong Zhuang, Na Zhang, Junyu Wang, Yuying Jiang, Hegan Zhang, Chunnuan Chen
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Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-30 Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima‐Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro
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Phosphoserine aminotransferase deficiency diagnosed by whole‐exome sequencing and LC–MS/MS reanalysis: A case report and review of literature Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-28 Jiaci Li, Xinping Wei, Yuchen Sun, Xiaofang Chen, Ying Zhang, Xiaoyu Cui, Jianbo Shu, Dong Li, Chunquan Cai
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A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-28 Mohammad Jahanpanah, Diana Mokhtari, Haleh Mokaber, Sara Arish, Farzad Ahmadabadi, Behzad Davarnia
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Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN Mol. Genet. Genomic Med. (IF 2.0) Pub Date : 2024-03-21 Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu
BackgroundCongenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%–27% of all CMS cases. Whether preimplantation genetic testing for monogenic disease (PGT‐M) could be used to prevent the potential birth of CMS‐affected children is unclear.MethodsApplication of WES (whole‐exome
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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 : 2024-02-28 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