Results 101 to 110 of about 4,368 (158)

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH

, 2012
The recognition of the 17q21.31 microdeletion and microduplication syndrome has been facilitated by high resolution oligonucleotide array comparative genome hybridization technology (aCGH).
Leze, E., Tzetis, M., Frysira, H., Kanavakis, E., Kakourou, G., Kitsiou-Tzeli, S., Giannikou, K., Syrmou, A., Sofocleous, C., Kosma, K.   +9 more
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Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family. [PDF]

Mol Cytogenet
Wang W, Zhan L, Xu L, Leng P.
europepmc   +1 more source

Maternally Inherited Atypical 22q11.2 Microduplication Presenting with Unilateral Microtia and Aural Atresia: A Case Report of Evidence for an Association with Severe Ear Malformations. [PDF]

Mol Syndromol
Kim HH, Jang W, Kim N, Park J.
europepmc   +1 more source

A clinical case of X-linked hypohidrotic ectodermal dysplasia caused by an Xq13.1 duplication affecting the EDA gene. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Stepanenko VI, Zhalsanova IZ, Fonova EA, Zuev AS, Gosudarkina SN, Kireeva TN, Ravzhaeva EG, Agafonova AA, Seitova GN, Monakhova AS, Skryabin NA.   +10 more
europepmc   +1 more source

Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report. [PDF]

Am J Case Rep
Wieniawski P, Warych M, Kucińska B, Janiec I, Werner B.   +4 more
europepmc   +1 more source

Genetic diagnosis in fetuses with biliary tract system abnormalities: a meta-analysis and systematic review. [PDF]

BMC Pregnancy Childbirth
Cao H, Qian Y, Zhang Z.
europepmc   +1 more source

Exploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases. [PDF]

Transl Pediatr
Xu J, Shen X, Chen W, Chen Y, Li H.
europepmc   +1 more source

Late Diagnosis of a 3p26.3p25.2 Microduplication in a Young Adult with Mild Neurodevelopmental Features: A Case Report and Literature Review. [PDF]

Mol Syndromol
Rangel-Méndez JA, Rubi-Castellanos R, Contreras-Capetillo S, González-Herrera L, Pinto-Escalante D.   +4 more
europepmc   +1 more source

Cerebellar structure and function abnormalities in 16p11.2 microduplication mice. [PDF]

Brain Commun
Hayes C, Halverson H, Keeran K, Tison K, Jacobo K, Karki A, Herring I, Tunuguntla SNS, Pace M, Doan B, Wen H, Klomp A, Lauffer M, Gaine ME, Parker KL, Williams AJ.   +15 more
europepmc   +1 more source

A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome. [PDF]

Case Rep Genet
Slear E, Thompson C, Ruas V.
europepmc   +1 more source