Results 111 to 120 of about 5,996,346 (272)

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC). [PDF]

Mol Cytogenet, 2021
Domaradzka J, Deperas M, Obersztyn E, Kucińska-Chahwan A, Brison N, Van Den Bogaert K, Roszkowski T, Kędzior M, Bartnik-Głaska M, Łuszczek A, Jakubów-Durska K, Vermeesch JR, Nowakowska BA.   +12 more
europepmc   +1 more source

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report [PDF]

, 2009
Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar.
Sheth Jayesh, Sheth, Frenny, Vermeesch Joris, Liehr, Thomas, Elisabeth Ewers, Kosyakova Nadezda, Manisha Desai, Nadezda Kosyakova, Weise Anja, Hamid Ahmed B, Kosyakova, Nadezda, Desai, Manisha, Andrieux, Joris, Sheth Frenny, Joris Andrieux, Jayesh Sheth, Thomas Liehr, Hamid, Ahmed, Ziegler Monika, Desai Manisha, Vermeesch, Joris, Anja Weise, Ewers, Elisabeth, Ziegler, Monika, Ewers Elisabeth, Monika Ziegler, Liehr Thomas, Weise, Anja, Ahmed B Hamid, Joris Vermeesch, Sheth, Jayesh, Frenny Sheth, Andrieux Joris   +32 more
core   +1 more source

Extraocular Photoreception in Optic Lobes, Suckers, and Skin of Octopus vulgaris

Integrative Zoology, EarlyView.
Evidence of extra‐ocular photoreception in Octopus vulgaris (a) Diagram of the O. vulgaris different tissues considered: SPB, sucker proximal big; SPL, sucker proximal large; SM, sucker medium; SD, sucker distal; SK, skin; OL, optic lobes; RT, retina; (b‐d) Gene expression analysis of Ov‐GRK1 (red), Ov‐retinochrome (green), Ov‐rhodopsin (blue) mRNA ...
Valeria Maselli, Al‐Sayed Al‐Soudy, Mariangela Norcia, Stefania Galdiero, Sara Palladino, Emanuela Cirillo, Gianluca Polese, Anna Di Cosmo   +7 more
wiley   +1 more source

Early‐Life Telomere Length Negatively Covaries With Brood Size and Father Age, and Predicts Long‐Term Survival in Male Barn Swallows (Hirundo rustica)

Integrative Zoology, EarlyView.
In barn swallows, nestlings raised in larger broods or by older social fathers have shorter telomeres, and those with longer telomeres tend to live longer, suggesting that early‐life conditions may shape individual lifespan through telomere dynamics. ABSTRACT Parental decisions on breeding, such as brood size and timing of reproduction, influence the ...
Andrea Novelli, Manuela Caprioli, Roberto Ambrosini, Alessandra Costanzo, Diego Rubolini, Marco Parolini, Andrea Romano   +6 more
wiley   +1 more source

Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

, 2009
Supernumerary marker chromosome 15 (sSMC[ 15]) is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region (PWACR).
Koc, Altug, Altuğ Koç, Onur, S. Oeduel, PERÇİN, FERDA EMRİYE, Mehmet Ali Ergün, S. Ödül Onur, E. Ferda Perçin, ERGÜN, MEHMET ALİ   +7 more
core   +1 more source

Sperm Telomere Interactions Are Impaired in Testicular Cancer Before and After Adjuvant Therapy

Andrology, EarlyView.
ABSTRACT Background No study has yet explored telomere length or interaction in sperm nuclei of testicular cancer (TC) patients exposed to chemotherapy or radiotherapy. However, sperm telomere dynamics have emerged as a potential marker in male infertility.
Benoit Berby, Sylvianne Hennebicq, Jacqueline Saias, Florence Brugnon, Isabelle Berthaut, Myriam Daudin, Louis Bujan, Ludovic Dumont, Christine Rondanino, Aurélie Feraille, Nathalie Rives   +10 more
wiley   +1 more source

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation

, 2002
A child and his mother were found to be mosaic for a small supernumerary marker chromosome (SMC) that was identified and characterized by means of fluorescent in situ hybridization.
G. Gottardi, L. Larizza, Giulietta Gottardi, O. Rodeschini, Ornella Rodeschini, Daniela Giardino, Palma Finelli, P. Finelli, M. G. Atza, D. Giardino, S. Russo, F. Natacci, Maria Gabriella Atza, Lidia Larizza, Federica Natacci, Silvia Russo   +15 more
core   +1 more source

Contact Activation Is Alleviated by Testosterone Replacement Therapy in Klinefelter Syndrome: Evidence of Hormonal and Metabolic Modulation

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome is associated with a markedly increased risk of venous thrombosis. While hypogonadism and metabolic dysfunction are known contributors, the role of the contact activation system in Klinefelter syndrome remains unexplored.
Simon Chang, Claus H. Gravholt, Anne Skakkebæk, Anna‐Marie Bloch Münster, Yaseelan Palarasah   +4 more
wiley   +1 more source

Hypogonadotropic hypogonadism associated with another small supernumerary marker chromosome (sSMC) derived from chromosome 22, a case report. [PDF]

Transl Androl Urol, 2021
Abdullah, Li C, Zhao M, Wang X, Li X, Xing J.   +5 more
europepmc   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

Andrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz, Wioletta Lech, Anna Figiel‐Dabrowska, Marta Kot, Magdalena Murzyn, Natalia Malawska, Barbara Pienkowska‐Grela, Zuzanna Sandowska‐Markiewicz, Iwona Ziolkowska‐Suchanek, Agnieszka Zimna, Tomasz Oldak, Natalia Rozwadowska, Anna Sarnowska   +12 more
wiley   +1 more source