Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing [0.03%]
APBA1蛋白质截短变异体与儿童期严重肥胖的关系及对基因检测的启示
Joanna Lerner,Abubakar Moawia,Stefanie Zorn et al.
Joanna Lerner et al.
Background: Severe, early-onset obesity is a monogenic disorder in a subset of patients. Recently, rare protein-truncating variants (PTVs) in BSN and APBA1 have been implicated as monogenic causes of obesity. Truncating v...
Daniela Angelova-Toshkina,Denny Schanze,Pia Vaassen et al.
Daniela Angelova-Toshkina et al.
Genetic testing in neurofibromatosis type 1 (NF1) occasionally reveals two heterozygous NF1 variants in the same individual. Correct interpretation hinges on allelic phasing, elucidation of somatic second hits in lesions, and distinction fr...
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review [0.03%]
一例与HNF1B有关的疾病早期诊断线索的新生儿糖尿病甲亢病例报告及文献复习
Marcin Kołbuc,Paweł Bednarek,Rafał Motyka et al.
Marcin Kołbuc et al.
Background: Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to as ...
Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndrome [0.03%]
阿扎胞苷和曲美替尼治疗与先天性黑色素细胞痣综合征相关的蛛网膜粒病的疗效
Lina Raljević,Katalin Komlosi,Ursula Feige et al.
Lina Raljević et al.
Background: Congenital melanocytic nevus syndrome is a disorder characterized by postzygotic, mosaic NRAS Proto-Oncogene, GTPase mutations. Clinical manifestations include melanotic skin lesions and, optionally, central n...
Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome [0.03%]
NAA10错义变异p.(L126R)、p.(L126V)或p.(F128L)导致的NAA10相关综合征女患者表型异质性研究
Anja Bühler,Katharina Aigner-Radakovics,Federica Diofano et al.
Anja Bühler et al.
Background: NAA10-related syndrome is an exceptionally rare X-linked disorder caused by variants in the N-alpha-acetyltransferase 10 (NAA10) gene. Despite its role in acetylating nearly half of the human proteome, establi...
The conundrum in diagnosing Maturity-Onset Diabetes of the Young (MODY) in a large German pedigree with early-onset diabetes and a novel HNF1A variant [0.03%]
德国一个大家系早期糖尿病患者中青年发病的成年发病常染色体显性糖尿病（MODY）诊断困境及HNF1A新突变点筛查
Eleni Z Giannopoulou,Abubakar Moawia,Josef Högel et al.
Eleni Z Giannopoulou et al.
Background: Genetic screening for maturity-onset diabetes of the young (MODY) involves sequencing of the coding regions of known disease-associated genes. We describe the complex and challenging diagnostic journey of a pa...
Retrospective screening for congenital cytomegalovirus infection in the Survey of Neonates in Pomerania shows very low disease burden [0.03%]
波莫娜新生儿调查的回顾性筛查显示先天性巨细胞病毒感染负担很低
Jan Baier,Chiara Konrad,Maximilian Groffmann et al.
Jan Baier et al.
Background: Congenital cytomegalovirus (cCMV) infection is considered one of the most common infectious pathologies in neonates, showing a wide range of clinical manifestations, ranging from completely asymptomatic to cri...
A rapid review of genetic association studies of parent-of-origin effects and fetal growth [0.03%]
遗传关联研究的快速回顾：父母来源效应与胎儿生长的关系
Esther Joo Won Kang,Andrew Thomas Dewan
Esther Joo Won Kang
Background: Genetic factors contribute, in part, to fetal growth restriction (FGR), a developmental condition of disrupted fetal development associated with serious health consequences. Among these factors, variants that ...
Risk factors and outcomes of delayed completion of the hexavalent 3 + 1 immunisation series in German preterm infants - an observational study [0.03%]
德国早产儿六联疫苗3+1延迟完成的风险因素及结局：一项观察性研究
Hannah Kraft,Marie-Theres Dammann,Kathrin Hanke et al.
Hannah Kraft et al.
Background: Although very low birthweight infants (VLBWI, birthweight < 1500 g) are at increased risk of infectious diseases, they frequently receive primary vaccinations with the hexavalent vaccine (DTaP-IPV-Hib-HepB) la...
Sepsis profile among preterm infants with enterostomy and fecal transfer: a multicenter retrospective cohort study [0.03%]
早产儿造瘘和粪便移植后的败血症特征：一项多中心回顾性队列研究
Zeina Al-Kudsi,Christian Wieg,Mats Ingmar Fortmann et al.
Zeina Al-Kudsi et al.
Background: Very low birth weight infants (VLBWI, < 1500 g) with abdominal complications often require enterostomy, interrupting physiological intestinal passage. Mucous fistula refeeding (MFR; fecal transfer) aims to res...