Results 111 to 120 of about 276,706 (214)

Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation

, 2000
We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX ...
CENANI, A, YILMAZ, S, HACIHANEFIOGLU, S, SILAHTAROGLU, A, DEVIREN, Ayhan, Tuysuz, Beyhan   +5 more
core  

Preimplantation genetic diagnosis for translocations [PDF]

Human Reproduction, 2006
openaire   +1 more source

The population and epidemiological dynamics associated with recent decline of woylies (Bettongia penicillata) in Australia

, 2010
The woylie or brush‐tailed bettong (Bettongia penicillata ogilbyi) has recently undergone a dramatic decline (approximately 80% between 2001 and 2006). The Woylie Conservation and Research Project (WCRP) was established to investigate possible causes of ...
Pacioni, Carlo
core  

Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach. [PDF]

Hum Reprod Open
Li Y, Chau MHK, Zhang YX, Gui BH, Lui WT, Lam CMV, Cao Y, Chung TCY, Wu CC, Ip PNP, Chan DYL, Kwok YKY, Chung JPW, Choy KW.   +13 more
europepmc   +1 more source

A Partial Trisomy 15q Due to 15;17 Translocation Detected by Conventional Cytogenetic and Fish Techniques

, 2000
We report a case having multiple abnormalities including the simultaneous presence of the heart defect and central nerve system abnormalities, which has been reported in a few cases, and with a partial trisomy 15q.
Acar, H., Oran, B., Cora, T.
core  

Chronic lymphocytic leukemia with <i>IGH</i>::<i>BCL3</i>-translocation is characterized by a homogeneous and distinct genetic and epigenetic landscape. [PDF]

Hemasphere
Drewes C, López C, Martinez-Manjón JE, Okeke N, Jebaraj B, Bens S, Brändl B, Dyer MJS, Eichhorst B, Fischer A, Fischer K, Robrecht S, Hallek M, Glaser S, Hillebrecht S, Jayne S, Kretzmer H, Mottok A, Müller FJ, Schneider C, Ammerpohl O, Del Val C, Stilgenbauer S, Tausch E, Siebert R.   +24 more
europepmc   +1 more source

Are Seasonal Acclimation and Genetic Variability of <i>Lobaria pulmonaria</i> Relevant for Conservation Translocation? A Case Study Along a Latitudinal Gradient in Italy. [PDF]

Plants (Basel)
Di Nuzzo L, Agostini M, Benesperi R, Ravera S, Bianchi E, Corneti S, Del Vecchio S, Francesconi L, Gheza G, Paoli L, Nascimbene J.   +10 more
europepmc   +1 more source

Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia

, 2001
Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Reid, AG, Campbell, LJ, Telford, N, Grace, C, Nacheva, EP, Shepherd, P, Szer, J, Green, AR, Bench, AJ, Prince, HM, Huntly, BJP, Turner, P   +11 more
core  

Case Report: Severe neonatal lupus in an infant with homozygous <i>NCF1</i> p.Arg90His variant and a <i>der</i>(14)<i>t</i>(4;14) translocation. [PDF]

Front Immunol
Yu X, Lou J, Zhong Y, Zhang L.
europepmc   +1 more source

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to <i>FBN1</i> Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling. [PDF]

Case Rep Genet
Beers B, Wexler H, MacCarrick G.
europepmc   +1 more source