Results 121 to 130 of about 103,621 (180)

Expectant management and live birth outcomes for male balanced-translocation carriers: Two case reports and a literature review. [PDF]

Medicine (Baltimore), 2020
Fan H, Wang X, Yang X, Zheng H, Feng S.
europepmc   +1 more source

An infant with trisomy 9 and partial trisomy 12 derived from maternal balanced translocation: A case report and literature review. [PDF]

J Int Med Res
Ming S, Zhou Z, Huang Y, Huang Y, Zhong J, Li Y.   +5 more
europepmc   +1 more source

Chromosome balanced translocation in newborn fetus founded during prenatal diagnosis: Three cases reports. [PDF]

Medicine (Baltimore)
Yao L, Kan X, Xia Y, Wang L, Zhao X, Lu Y.   +5 more
europepmc   +1 more source

Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect. [PDF]

Cells
De Falco A, Gambale A, Pinelli M, Suero T, De Falco L, Iolascon A, Martone S.   +6 more
europepmc   +1 more source

A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report. [PDF]

BMC Med Genomics, 2019
Tsutsumi M, Hattori H, Akita N, Maeda N, Kubota T, Horibe K, Fujita N, Kawai M, Shinkai Y, Kato M, Kato T, Kawamura R, Suzuki F, Kurahashi H.   +13 more
europepmc   +1 more source

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis. [PDF]

Am J Med Genet B Neuropsychiatr Genet, 2017
Bouwkamp CG, Kievit AJ, Olgiati S, Breedveld GJ, Coesmans M, Bonifati V, Kushner SA.   +6 more
europepmc   +1 more source

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. [PDF]

PLoS One, 2018
Aristidou C, Theodosiou A, Bak M, Mehrjouy MM, Constantinou E, Alexandrou A, Papaevripidou I, Christophidou-Anastasiadou V, Skordis N, Kitsiou-Tzeli S, Tommerup N, Sismani C.   +11 more
europepmc   +1 more source

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.

J Clin Endocrinol Metab, 2020
Stamou M, Ng SY, Brand H, Wang H, Plummer L, Best L, Havlicek S, Hibberd M, Khor CC, Gusella J, Balasubramanian R, Talkowski M, Stanton LW, Crowley WF.   +13 more
europepmc   +1 more source

Balanced translocation linked to psychiatric disorder, glutamate, and cortical structure/function. [PDF]

NPJ Schizophr, 2016
Thomson PA, Duff B, Blackwood DH, Romaniuk L, Watson A, Whalley HC, Li X, Dauvermann MR, Moorhead TW, Bois C, Ryan NM, Redpath H, Hall L, Morris SW, van Beek EJ, Roberts N, Porteous DJ, St Clair D, Whitcher B, Dunlop J, Brandon NJ, Hughes ZA, Hall J, McIntosh A, Lawrie SM.   +24 more
europepmc   +1 more source