Results 141 to 150 of about 2,980 (198)

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Andreescu N, Caba L, Popoiu TA, Mozos I, Gug C.   +5 more
europepmc   +1 more source

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree. [PDF]

Hum Mutat
Zhou W, Liu F, Li S, Wu D, Yang J.
europepmc   +1 more source

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient. [PDF]

Front Endocrinol (Lausanne)
Casiraghi A, Campi I, Federici S, Cernigliaro F, Menabò S, Persani L.   +5 more
europepmc   +1 more source

Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report. [PDF]

AJP Rep
Yin Y, Huang X, Shi Y, Huang C, Yu J, Liu Q.   +5 more
europepmc   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. [PDF]

Int J Neonatal Screen
Jia X, Xie T, Jiang X, Tang F, Tan M, Chen Q, Liu S, Huang Y, Tao L.   +8 more
europepmc   +1 more source

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing. [PDF]

Sci Rep
Claps A, Claps A, Kolomenski JE, Fernández F, Macchiaroli N, Ingravidi ML, Delea M, Fernández C, Castro T, Laiseca J, Kamenetzky L, Taboas M, Dain L.   +12 more
europepmc   +1 more source

The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l‐hydroxylase deficiency in a Chinese cohort

, 2020
Yang Liu, Jie Zheng, Nan Liu, Xiaowei Xu, Xinjie Zhang, Ying Zhang, Guoxu Li, Geli Liu, C Cai, Jianbo Shu   +9 more
openalex   +1 more source

Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations. [PDF]

Front Pediatr
Zeng J, Huang X, Li Y, Yan T, Lou J, Lyu G, Li Y.   +6 more
europepmc   +1 more source

A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype–phenotype nonconcordance

, 2015
Ahmed Khattab, Tony Yuen, Sultan G. Almalki, Mabel Yau, Diya Kazmi, Li Sun, Madeleine D. Harbison, Shozeb Haider, Mone Zaidi, Maria I. New   +9 more
openalex   +1 more source

Causal Relationships Between Neuropathic Pain and Alzheimer's Disease: A Multi-Omics Mendelian Randomization Study with Exploratory Evidence of a Potential Protective Role of Diabetic Neuropathy. [PDF]

J Pain Res
Li X, Zhang C, Liu D, Shang H, Wang K, Lin X, Zheng J.   +6 more
europepmc   +1 more source