Results 71 to 80 of about 2,436,409 (301)

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj   +1 more source

Molecular analysis of a large novel deletion causing α+-thalassemia

BMC Medical Genetics, 2019
Background α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and ...
Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang   +10 more
doaj   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes

, 2019
Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition ...
Raquel Garcia Delgado, Novoa Medina, Yeray, López Siles, Juan, Palma Milla, Carmen, Carmen Palma Milla, Juan Lopez Siles, Raquel Garcia Rodriguez, Julio Perez Gonzalez, Alfredo Santana Rodriguez, Medina Castellano, Margarita, Santana Rodríguez, Alfredo, García Hernandez, José Angel, Jose Angel Garcia Hernandez, García Delgado, Raquel, García Rodríguez, Raquel, Pérez Gonzalez, Julio, Loida Garcia Cruz, Yeray Novoa Medina, Margarita Medina Castellano, García Cruz, Loida   +19 more
core   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

, 2014
Objective The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Yi Zhou, Pan, Xiaoyu, Tze Kin Lau, Shi, Shuqiong, Zheng, Jing, Shi, Xiaomei, Weiwei Xie, Qun Fang, Wei Wang, Fuman Jiang, Yuan Wei, Fang Chen, Hui Jiang, Shengpei Chen, Li, Xuchao, Jiang, Fuman, Zhang, Chunlei, Su, Fengxia, Liu, Qiufang, Lau, Tze Kin, Lei, Dongzhu, Wu, Qichang, Xuchao Li, Gao, Ya, Xu, Chenming, Guo, Xiaoling, Yangyu Zhao, Shuqiong Shi, Wang, Wei, Huijuan Ge, Xie, Weiwei, Xiaoyu Pan, Xiaoling Guo, Qichang Wu, Wei, Yuan, Lifu Liu, Ge, Huijuan, Zhang, Hongyun, Fang, Qun, Fengxia Su, Min Chen, Xiaomei Shi, Jiang, Hui, Jing Zheng, Zhao, Yangyu, Qiufang Liu, Chunlei Zhang, Chen, Fang, Ya Gao, Chen, Min, Liu, Lifu, Zhou, Yi, Chenming Xu, Xuan Huang, Dongzhu Lei, Huang, Xuan, Chen, Shengpei, Hongyun Zhang   +57 more
core   +1 more source

Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing

The Application of Clinical Genetics
Tingting Liu, Mingtao Huang, Min Dai, Yixuan Liang, Cuiping Zhang, Jianxin Tan, Fengchang Qiao, Yan WangDepartment of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Women and Children’s Healthcare Hospital, Nanjing, Jiangsu ...
Liu T, Huang M, Dai M, Liang Y, Zhang C, Tan J, Qiao F, Wang Y   +7 more
doaj  

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source