Results 201 to 210 of about 100,877 (263)

Case Report: Expanding the diagnostic spectrum of non-invasive prenatal testing to structural chromosomal abnormalities. [PDF]

Front Genet
Kim JC, Kim H, Jang H, Go M, Park JE, Ryu CS, Chin MU, Kim EH, Lee YJ, Shim SH, Cha DH.   +10 more
europepmc   +1 more source

Shared genetic and molecular architecture between neurodevelopmental disorders and type 1 diabetes

Journal of Intelligent Medicine, EarlyView.
Abstract Epidemiological and clinical studies have suggested possible associations between type 1 diabetes (T1D) and neurodevelopmental disorders (NDDs), but these relationships remain inconsistent across disorders and populations. To clarify whether such mixed findings, we investigated the genetic architecture linking T1D with autism spectrum disorder
Jingxuan Zhang, Zhentao Zhou, Lirong Zhu, Wei Liu   +3 more
wiley   +1 more source

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications. [PDF]

Medicine (Baltimore)
Xu T, Yue F, Ge Y, Liu R.
europepmc   +1 more source

Insights into Copy Number Variation Architecture in Black Bengal Goat Genome. [PDF]

Int J Mol Sci
Nayak SS, Mittal S, Panigrahi M.
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Wang Z, Chen X, Cui Z, Qi X, Gu L, Liu Y, Zhao W, Jiang Y.   +7 more
europepmc   +1 more source

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure. [PDF]

Bioinformatics
Lascelles C, Raynor M, Crinnion LA, Rose AMS, Diggle CP, Poulter JA, Watson CM, Carr IM.   +7 more
europepmc   +1 more source

Rare 19q13.42 duplication encompassing <i>PRKCG</i> associated with neurodevelopmental abnormalities. [PDF]

Transl Pediatr
Su J, Yang L, Li H, Dong P, Wang S, Cheng G, Wu B, Wang H, Lu Y, Zhou W.   +9 more
europepmc   +1 more source

Family-Based Interpretation of a Prenatally Detected 15q11.2 Duplication. [PDF]

Cureus
Spathi AE, Lagios S, Papanikolaou V, Kostoulas C, Sesse A, Theochari E, Leoutsakou T, Psarris A, Kavvadia M, Stauroulaki T, Destouni A, Georgiou I, Pampanos A.   +12 more
europepmc   +1 more source

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Synchrony of Chromosome Duplication

Nature, 1966
IN some recent publications statements have been made on the marked asynchrony of homologous pairs of autosomes with respect to duplication of the chromosomes—as studied with tritiated thymidine1–3. In an earlier publication, in which quantitative analysis of grain counts on chromosomes has been performed, we have reported that no evidence for a marked
C W, Gilbert, L G, Lajtha, S, Muldal, C H, Ockey   +3 more
openaire   +2 more sources