Results 151 to 160 of about 22,195,386 (187)

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service. [PDF]

Alcohol Clin Exp Res (Hoboken)
Byrnes S, Collins F, Elliott E.
europepmc   +1 more source

Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience. [PDF]

BMC Pregnancy Childbirth
Alpay V, Ersan F, Boza B, Makul M.
europepmc   +1 more source

1q25.3-q32.1 deletion causing multisystem developmental delay: a case report and literature review. [PDF]

Front Pediatr
Liu L, Yu R, Zhang W, Huang S, Huang T.
europepmc   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China. [PDF]

Appl Clin Genet
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z.   +10 more
europepmc   +1 more source

Natural history and prognostic significance of fetal choroid plexus cysts: a systematic review. [PDF]

BMC Pregnancy Childbirth
Shirazinejad S, Moradi H, Khanjani S.
europepmc   +1 more source

A young girl with partial chromosome 15q11.2 microduplication: a case report in Cameroon. [PDF]

BMC Pediatr
Betoko RM, Dahoun S, Ntsoli G, Sloan-Bena F, Bodieu AC, Nengom JT, Sap S.   +6 more
europepmc   +1 more source

Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing. [PDF]

Hum Genomics
Wang J, Zhao J, Wang W, Zhu X, Zhang B, Yu B.   +5 more
europepmc   +1 more source

High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients

Leukemia Research, 2019
Acute Lymphoblastic Leukemia (ALL) is a malignancy of the immature lymphoid cells mainly associated with numerical and structural chromosomal aberrations.
Katerina Katsibardi, Emmanuel Kanavakis, Antonis Kattamis   +2 more
exaly   +6 more sources

Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice

Journal of Pediatrics, 2022
Chromosomal microarray analysis (CMA) frequently yields inconclusive results. We reexamined inconclusive CMA results from 33 previously tested patients and reached a definitive diagnosis in 3 (9.1%) and identified the need for additional testing in 4 (12.
Guanglu Shi, Jason Y. Park, Garrett Gotway   +2 more
exaly   +1 more source