Results 71 to 80 of about 226,802 (259)

Contribution of an Ambidirectional Cohort Study on the Epidemiology of 186 Autism Spectrum Disorder Cases in an Algerian Population

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
This study is the first to report clinical and paraclinical profiles of autism spectrum disorder (ASD) in Algeria, as well as the prenatal, perinatal and postnatal factors. Findings were similar to other countries. The study highlights the need for increased awareness and training to improve early recognition of ASD in Algeria. ABSTRACT Autism spectrum
Ourida Loumi, Christian R. Andres
wiley   +1 more source

Fragility in the 14q21q translocation region

Genetics and Molecular Biology, 2002
Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q).
Stacy R. Denison, Asha S. Multani, Sen Pathak, Ira F. Greenbaum   +3 more
doaj   +1 more source

A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure [PDF]

, 2017
Balanced complex chromosomal rearrangements are very rare events in the human population. Translocations involving three or more chromosomes frequently lead to a severe reproductive impairment secondary to meiotic disturbance in males and to chromosomal ...
Blouin, J.L., Brunel, M.J., Lespinasse, J., Malzac, P., North, M.O., Paravy, C.   +5 more
core  

Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience

Andrology, Volume 13, Issue 5, Page 1078-1092, July 2025.
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Manon S. Oud, Nicole de Leeuw, Dominique F. C. M. Smeets, Liliana Ramos, Godfried W. van der Heijden, Raoul G. J. Timmermans, Maartje van de Vorst, Tom Hofste, Marlies J. E. Kempers, Marijn F. Stokman, Kathleen W. M. D'Hauwers, Brigitte H. W. Faas, Dineke Westra   +12 more
wiley   +1 more source

Robertsonian translocation as an acquired karyotypic abnormality in leukaemia [PDF]

British Journal of Haematology, 1997
Robertsonian translocations, although relatively common as a constitutional genetic aberration, are rarely encountered in leukaemia. We report a case of acute myeloid leukaemia which showed an acquired Robertsonian translocation in the form of der(14;21) by cytogenetic analysis of leukaemic cells.
Ma, SK, Chow, EYD, Wan, TSK, Chan, LC
openaire   +3 more sources

Sperm nuclear architecture is locally modified in presence of a Robertsonian translocation t(13;17). [PDF]

PLoS One, 2013
In mammals, the non-random organization of the sperm nucleus supports an early function during embryonic development. Altering this organization may interfere with the zygote development and reduce fertility or prolificity.
Acloque H, Bonnet-Garnier A, Mompart F, Pinton A, Yerle-Bouissou M.   +4 more
europepmc   +2 more sources

Marker‐assisted selection for combining stem rust and stripe rust resistance in wheat using rye derived genes

Crop Science, Volume 65, Issue 3, May/June 2025.
Abstract Stem rust and stripe rust are among the most devastating wheat (Triticum aestivum L.) diseases globally. This study used marker‐assisted selection to incorporate two resistance genes, Sr59 and YrSLU (where SLU is Swedish University of Agriculture Science), derived from rye (Secale cereale L.), into elite wheat backgrounds.
Mahboobeh Yazdani, Rimsha Ashraf, Eva Johansson, Pernilla Vallenback, Mogens S. Hovmøller, Mehran Patpour, Mahbubjon Rahmatov   +6 more
wiley   +1 more source

Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present genetic counseling, prenatal diagnosis and postnatal follow-up of 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY at amniocentesis in a pregnancy with a favorable fetal outcome.
Chih-Ping Chen, Jenn-Jhy Tseng, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang   +7 more
doaj   +1 more source

Reciprocal Translocations in Cattle: frequency estimation [PDF]

, 2010
Chromosomal anomalies, like Robertsonian and reciprocal translocations represent a big problem in cattle breeding as their presence induces, in the carrier subjects, a well documented fertility reduction.
Lorenzi, Lisa de, Molteni, Luciano, Morando, Paola, Parma, Pietro, Planas Cuchi, Jordi, Zannotti, Michele   +5 more
core   +1 more source

Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days [PDF]

, 2009
Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or ...
Baumgartner, Adolf, Escudero, Tomas, Kwan, Johnson, Lu, Chun-Mei, Munné, Santiago, Wang, Mei, Weier, Heinz-Ulrich G., Weier, Jingly F.   +7 more
core   +2 more sources