Results 91 to 100 of about 820,835 (359)

Uterine selection of human embryos at implantation [PDF]

, 2014
Human embryos frequently harbor large-scale complex chromosomal errors that impede normal development. Affected embryos may fail to implant although many first breach the endometrial epithelium and embed in the decidualizing stroma before being rejected ...
A Mertzanidou, B Cloke, B Crespi, BC Han, BM Forman, CH Weimar, D Emera, D Emera, D Haig, DM Benbrook, E Rajcan-Separovic, E Vanneste, EB Chuong, EM Heijnen, FU Hartl, G Teklenburg, GW Wong, H Yang, HH Kampinga, JJ Brosens, JJ Brosens, LA Kazal, M Furuhashi, M Iwaki, M Ohmuraya, M Salker, MD Stephenson, MS Salker, MS Salker, N Arimura, N Mansouri-Attia, N Sharma, N Sharma, NS Macklon, P Walter, R Rai, S Altmae, S Kaushik, S Quenby, T Iwawaki, T Kadowaki, Y Kabeya, YC Ruan, YH Yang, YJ Kim   +44 more
core   +2 more sources

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

Geburtshilfe und Frauenheilkunde, 2018
Purpose Official guideline of the German Society of Gynecology and Obstetrics (DGGG), the Austrian Society of Gynecology and Obstetrics (ÖGGG) and the Swiss Society of Gynecology and Obstetrics (SGGG).
B. Toth, W. Würfel, M. Bohlmann, J. Zschocke, S. Rudnik-Schöneborn, F. Nawroth, E. Schleußner, N. Rogenhofer, T. Wischmann, M. von Wolff, K. Hancke, S. von Otte, R. Kuon, K. Feil, C. Tempfer   +14 more
semanticscholar   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Study of Recurrent Miscarriage. Is Hysterosalpingography Necessary? [PDF]

, 2013
Overview and Aims: The investigation of recurrent miscarriage includes the study of uterine morphology. 3D ultrasound allows the evaluation of the morphology (cavity and outer contour), reducing the need for invasive tests such as hystero ...
Aboim, L, Mendes, N, Pinto, G, Rosa, D, Serrano, F   +4 more
core  

Endometrial injury in women undergoing assisted reproductive techniques [PDF]

, 2015
ACKNOWLEDGEMENTS We would like to express our appreciation to Dra Abha Maheshwari for her important authorial contribution to the previous version of this review.
Bhattacharya, Siladitya, Ferriani, Rui A, Gibreel, Ahmed, Lensen, Sarah F, Martins, Wellington P, Nastri, Carolina O, Raine-Fenning, Nick   +6 more
core   +1 more source

Alteration of vaginal microbiota in patients with unexplained recurrent miscarriage

Experimental and Therapeutic Medicine, 2019
The way in which a balanced vaginal microbiome helps prevent gynecological diseases in women and maintain health remains to be fully elucidated. In the present study, the potential effect of aberrations in the vaginal flora on unexplained recurrent ...
Feng Zhang, Tao Zhang, Ying-Ying Ma, Zhangqian Huang, Yao He, Haitao Pan, M. Fang, Haigang Ding   +7 more
semanticscholar   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Inherited thrombophilia and reproductive disorders [PDF]

, 2018
K
Csorba, Roland, Galazios, Georgios, Liatsikos, Spyros A., Manav, Bachar, Tempelhoff, Georg-Friedrich von, Tsikouras, Panagioti   +5 more
core   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source