Results 121 to 130 of about 774,869 (213)

Highly precise breakpoint detection of chromosome balanced translocation in chronic myelogenous leukaemia: Case series. [PDF]

J Cell Mol Med, 2022
Yang C, Cui X, Xu L, Zhang Q, Tang S, Zhang M, Xie N.   +6 more
europepmc   +1 more source

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins [PDF]

, 2005
Diana Johnson
openalex   +1 more source

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing. [PDF]

Genes (Basel), 2022
Aristidou C, Theodosiou A, Alexandrou A, Papaevripidou I, Evangelidou P, Kosmaidou-Aravidou Z, Behjati F, Christophidou-Anastasiadou V, Tanteles GA, Sismani C.   +9 more
europepmc   +1 more source

Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing? [PDF]

, 2018
Malgorzata I. Srebniak, Ida Vogel, Diane Van Opstal   +2 more
openalex   +1 more source

A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation. [PDF]

J Med Cases, 2022
Cho C, Kodo K, Goto S, Katsumi Y.
europepmc   +1 more source

Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports. [PDF]

J Med Case Rep, 2021
Wan X, Li L, Liu Z, Fan Z, Yu L.
europepmc   +1 more source

Prenatal Diagnosis of Unbalanced Translocation t(5;11)(q21;q22) With a Jacobsen Syndrome Clinical Phenotype

Clinical Case Reports
This case report describes a fetus with a Jacobsen syndrome phenotype, caused by an unbalanced translocation t(5;11)(q21;q22) resulting from an inherited balanced translocation from one of the parents; it underscores the importance of undertaking ...
Yuri Hasegawa, Yuriko Kitajima, Koh Nagata, Shoko Miura, Kiyonori Miura   +4 more
doaj   +1 more source

Correction to: Recurrent spontaneous abortion related to balanced translocation of chromosomes: two case reports. [PDF]

J Med Case Rep, 2021
Wan X, Li L, Liu Z, Fan Z, Yu L.
europepmc   +1 more source

A balanced t(10;15) translocation in a male patient with developmental language disorder

, 2011
A. Gulhan Ercan‐Sencicek, Nicole R. Davis Wright, Stephan Sanders, Nicole Oakman, Lianna Valdes, Betul Bakkaloglu, Niamh Doyle, Carolyn M. Yrigollen, Thomas M. Morgan, Elena L. Grigorenko   +9 more
openalex   +2 more sources

Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus. [PDF]

Endocrinol Diabetes Metab Case Rep, 2022
Netto VS, Bellincanta G, Neto GPC, de Araujo Evangelista NM, Figueiredo CC, Salmona P, Tonetto-Fernandes VF.   +6 more
europepmc   +1 more source