Results 151 to 160 of about 22,210,683 (294)

Karyotype analysis of murine macrophages for undergraduate students [PDF]

, 2014
photomicroscopykaryotypemacrophageThe chapter, "Karyotype analysis of murine macrophages for undergraduate students" was written by the listed authors including Lynette B. Sigola (Douglas College Faculty).

core  

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features

Molecular Cytogenetics
Introduction A unique case of mosaic tetrasomy 9p was found using CNV-seq analysis of uncultured amniocytes, which was missed by karyotype analysis of cultured amniocytes.
Xingkun Yang, Yasi Zhou, Xiaodan Zhu, Tingting Xiao, Miaoling Ou, Linghua Zhang, Xiang Huang, Xiaoling Guo, Chao Li   +8 more
doaj   +1 more source

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A. Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S. Gebb, Shelly Soni, Sonika Agarwal, Beverly G. Coleman, Haley M. Crane, Mary E. Norton, Billie R. Lianoglou, Alex Gibbs, Lyn S. Chitty   +18 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Bortezomib‐based chemotherapy in Chinese pediatric patients with relapsed/refractory acute lymphoblastic leukemia: A single‐center retrospective study

Pediatric Investigation, EarlyView.
Bortezomib‐based chemotherapy achieved an 88.9% remission rate in Chinese pediatric patients with relapsed/refractory B‐cell acute lymphoblastic leukemia, enabling 62.5% of responders to bridge to transplantation, while T‐cell acute lymphoblastic leukemia showed no response.
Xingyu Zhao, Jian Wang, Liping Que, Dunhua Zhou, Jianpei Fang, Luhong Xu   +5 more
wiley   +1 more source

Prenatal findings and postnatal outcomes in cases of closed spinal dysraphism: 10‐year two‐center cohort study

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To characterize prenatal ultrasound findings in fetuses with prenatally diagnosed closed spinal dysraphism (CSD) and report their postnatal management and functional outcomes at 18 and 36 months. Methods This retrospective cohort study included all fetuses with a prenatal diagnosis of CSD assessed between January 2014 and December ...
Y. Athiel, E. Van Den Eede, T. De Saint Denis, E. Blondiaux, F. Dhombres, P. Maurice, A. Dugas, H. Simonnet, L. Guilbaud, C. Garel, H. Van Der Merwe, M. Aertsen, P. Devloo, R. Devlieger, J. Deprest, J.‐M. Jouannic   +15 more
wiley   +1 more source

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

A Uterus‐Preserving Laparoscopic Technique for Cervicovaginal Agenesis With Functional Uterine Remnants

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Cervicovaginal agenesis with functional uterine remnants is a rare Müllerian anomaly that may cause obstructed menstrual flow, pelvic pain, haematometra, haematosalpinx and endometriosis. Uterus‐preserving reconstruction is challenging because it requires both neovaginal creation and durable uterine drainage.
Kiper Aslan, Isil Kasapoglu, Bahadir Kosan, Gürkan Uncu   +3 more
wiley   +1 more source

CytoGPS: A large-scale karyotype analysis of CML data. [PDF]

Cancer Genet, 2020
Abrams ZB, Li S, Zhang L, Coombes CE, Payne PRO, Heerema NA, Abruzzo LV, Coombes KR.   +7 more
europepmc   +1 more source