Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example [0.03%]
新生儿重症监护病房的分子基因筛查：黄疸为例
Yuqi Yang,Yu Wang,Lingna Zhou et al.
Yuqi Yang et al.
Objective: To explore the clinical value of newborn genomic screening (nGS) for neonatal intensive care units (NICU) infants (taking neonatal hyperbilirubinemia as an example). ...
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation [0.03%]
儿童心理运动发育迟缓遗传咨询中aCGH的临床意义
Magdalena Pasińska,Ewelina Łazarczyk,Anna Repczyńska et al.
Magdalena Pasińska et al.
Introduction: The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the abnormal development of secondary sex character...
CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus [0.03%]
印尼Ⅰ型糖尿病患者的CTLA-4 CT-60 A/G和CTLA-4 1822 C/T基因多态性研究
Nur Rochmah,Muhammad Faizi,Suhasta Nova et al.
Nur Rochmah et al.
Introduction: CTLA-4 gene polymorphism plays an important role in children with type 1 diabetes mellitus (T1DM). However, data on this subject vary among different races and ethnics. ...
HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus [0.03%]
印度尼西亚Ⅰ型糖尿病患儿HLA-DQA1和DQB1基因多态性分析
Soetjipto,Nur Rochmah,Muhammad Faizi et al.
Soetjipto et al.
Background: More than 40 genes influence the progression of type 1 diabetes mellitus (T1DM), including human leukocyte antigen (HLA) alleles. Different HLA genotype patterns result in diverse rates of T1DM development. HL...
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome [0.03%]
CDC6基因新复合杂合突变导致的梅耶-戈尔林综合症患者案例报道
Viktoriia Zabnenkova,Olga Shchagina,Olga Makienko et al.
Viktoriia Zabnenkova et al.
Background: Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patell...
First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features [0.03%]
哥伦比亚Becker型先天性肌强直首两例报告：临床及基因特点
Jorge Andres Olave-Rodriguez,Francisco Javier Bonilla-Escobar,Estephania Candelo et al.
Jorge Andres Olave-Rodriguez et al.
Background: Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is cau...
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam [0.03%]
在越南通过检测新型COL7A1基因突变进行DEB的胚胎植入前遗传学诊断
Sang Trieutien,Tam Vu Van,My Tran Ngoc Thao et al.
Sang Trieutien et al.
Background: Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to seve...
Anne Marie Jelsig,Anna Byrjalsen,Majbritt Busk Madsen et al.
Anne Marie Jelsig et al.
Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes r...
Connie H Miller
Connie H Miller
Hemophilia B (HB) is a bleeding disorder caused by deficiency of or defect in blood coagulation factor IX (FIX) inherited in an X-linked manner. It results from one of over 1000 known pathogenic variants in the FIX gene, F9; missense and fr...
Nikoletta Nagy,Anna Dubois,Marta Szell et al.
Nikoletta Nagy et al.
CYLD cutaneous syndrome (CCS) is an inclusive label for the inherited skin adnexal tumour syndromes Brooke-Spiegler Syndrome (BSS-OMIM 605041), familial cylindromatosis (FC - OMIM 132700) and multiple familial trichoepitheliomas (MFT-OMIM 6...