Results 21 to 30 of about 17,833 (262)

Resúmenes de la Literatura Actual

Revista Colombiana de Obstetricia y Ginecología, 1971
Intervalo entre la conizacion cervical y la histerectomía Un método enzimático para el diagnostico de la mola hidatidiforme Carcinoma de la vulva Fenotipo de Turner con cromosomas sexuales normales Phenotypic aspects of sex chromosome aberrations La
Federación Colombiana de Obstetricia y Ginecología
doaj   +1 more source

45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea: A Case Report

Journal of the ASEAN Federation of Endocrine Societies, 2020
45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable.
Eunice Yi Chwen Lau, Yin Khet Fung
doaj   +1 more source

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

Chromosomal Analysis of Couples with Repeated Spontaneous Abortions in Northeastern Iran [PDF]

International Journal of Fertility and Sterility, 2015
Background Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs).
Saeedeh Ghazaey, Fatemeh Keify, Farzaneh Mirzaei, Masumeh Maleki, Semiramis Tootian, Mitra Ahadian, Mohammad Reza Abbaszadegan   +6 more
doaj   +1 more source

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Molecular Cytogenetics, 2018
Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual.
Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki   +5 more
doaj   +1 more source

Genetic disorders and male infertility

Reproductive Medicine and Biology, 2020
Background At present, one out of six couples is infertile, and in 50% of cases, infertility is attributed to male infertility factors. Genetic abnormalities are found in 10%‐20% of patients showing severe spermatogenesis disorders, including non ...
Shinnosuke Kuroda, Kimitsugu Usui, Hiroyuki Sanjo, Teppei Takeshima, Takashi Kawahara, Hiroji Uemura, Yasushi Yumura   +6 more
doaj   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

BMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti, Anthony Cesta, Claudio Dello Russo, Antonella Cima, Maria Antonietta Barone, Antonella Viola, Davide Sparacino, Alvaro Mesoraca, Claudio Giorlandino   +8 more
doaj   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2020
Background Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general
Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev, Lyudmila Angelova   +5 more
doaj   +1 more source