European Journal of Medical Genetics
Papers 1891
1 page of 190 pages (1,891 results)
Published on May 1, 2019in European Journal of Medical Genetics2.02
Young Bae Sohn13
Estimated H-index: 13
Jung Min Ko9
Estimated H-index: 9
+ 5 AuthorsChoong-Ho Shin
Abstract Cystic fibrosis (MIM # 219700 ) is one of the most common autosomal recessively inherited diseases in Caucasians and is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. However, this disease is much less frequent in Asian populations. Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis. Six Korean patients from five families (two females and four males; median age,...
S. Munne74
Estimated H-index: 74
Francesca Spinella6
Estimated H-index: 6
+ -3 AuthorsFrancesco Fiorentino13
Estimated H-index: 13
Abstract Objective To determine the pregnancy outcome potential of euploid, mosaic and aneuploid embryos. Design Retrospective study. Setting Reference genetics laboratories. Patient(s) 2654 PGT-A cycles with euploid characterized embryo transfers, 253 PGT-A cycles with transfer of embryos characterized as mosaic, and 10 PGT-A cycles with fully abnormal embryo transfers. Intervention(s) Blastocysts were assessed by trophectoderm (TE) biopsy followed by PGT-A via array CGH or NGS. Main outcome me...
Published on May 1, 2019in European Journal of Medical Genetics2.02
Andreas Schmutzler15
Estimated H-index: 15
(CAU: University of Kiel),
Andreas G. Schmutzler
Abstract Objective In the context of artificial reproductive technology (ART) treatments with in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), the purpose of genetic screening of oocytes and embryos in vitro prior to implantation (preimplantation genetic screening, PGS) is highly controversial. Therefore, an analysis of the following theoretical prerequisites is presented: the abstract investigation method and the medical diagnostic decision, indication and ethical accept...
Published on Jun 1, 2019in European Journal of Medical Genetics2.02
D.H. McCulloh15
Estimated H-index: 15
(NYU: New York University),
Mina Alikani25
Estimated H-index: 25
+ 3 AuthorsS. Munne74
Estimated H-index: 74
(Yale University)
Abstract Although oocyte donors are young and are expected to provide a high rate of euploid oocytes, significant differences of euploidy rates for donor embryos exist between different IVF centers (1). Laboratory conditions can lead to differences of euploidy (2,3,4,5,6,7); but, the role of COH has not been investigated. In this study, we investigated whether euploidy rates in the embryos created from donor oocytes are influenced by controlled ovarian hyperstimulation parameters used during ass...
Published on Jun 6, 2019in European Journal of Medical Genetics2.02
Sofie Demeulenaere , Diane Beysen + 3 AuthorsMarije E. Meuwissen1
Estimated H-index: 1
(University of Antwerp)
Abstract Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features. Animal studies indicate BRPF1 as an important mediator in brain development. However, only...
Published on Jun 1, 2019in European Journal of Medical Genetics2.02
Claudia Vingerhoets (UM: Maastricht University), Desmond H. Y. Tse4
Estimated H-index: 4
(UM: Maastricht University),
Therese van Amelsvoort40
Estimated H-index: 40
(UM: Maastricht University)
Abstract 22q11.2 deletion syndrome (22q11DS) is a genetic disorder caused by a hemizygous microdeletion on the long arm of chromosome 22 and is associated with a high risk for psychosis and cognitive impairment. One of the genes located in the deleted region of 22q11DS is Proline Dehydrogenase (PRODH) which is important for conversion of proline to glutamate. Glutamate is the primary excitatory neurotransmitter and is involved in the pathophysiology of psychosis as well as in cognition. Excessiv...
Published on Jun 1, 2019in European Journal of Medical Genetics2.02
Leena Kadam7
Estimated H-index: 7
(WSU: Wayne State University),
Chandni Jain4
Estimated H-index: 4
(WSU: Wayne State University)
+ 3 AuthorsD. Randall Armant29
Estimated H-index: 29
(WSU: Wayne State University)
Abstract Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring placental function. These cells are obtained with a cervical cytobrush, a routine relatively safe clinical procedure during pregnancy, according to published studies and our ...
Malak Al Ghamdi (KSU: King Saud University), Mohammad M. Al-Qattan26
Estimated H-index: 26
(KSU: King Saud University)
+ -3 AuthorsMohammed AlBalwi4
Estimated H-index: 4
(National Guard Health Affairs)
Abstract SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of three unrelated families with SHFM6 caused by three novel WNT10B pathogenic variants. The index patient of the first family was homozygous for the nonsense variant c.676C > T (...
Published on May 1, 2019in European Journal of Medical Genetics2.02
Joyce C. Harper46
Estimated H-index: 46
(UCL: University College London),
Gerald Schatten71
Estimated H-index: 71
(University of Pittsburgh)
Abstract Perhaps the two most significant pioneering biomedical discoveries with immediate clinical implications during the past forty years have been the advent of assisted reproductive technologies (ART) and the genetics revolution. ART, including in vitro fertilization (IVF), intracytoplasmic sperm injection and preimplantation genetic testing, has resulted in the birth of more than 8 million children, and the pioneer of IVF, Professor Bob Edwards, was awarded the 2010 Nobel Prize. The geneti...
Neerja Gupta14
Estimated H-index: 14
Sakshi Yadav + -3 AuthorsMadhulika Kabra26
Estimated H-index: 26
Abstract THOC6 is a newly described causal gene for an autosomal recessive intellectual disability (ID) - Beaulieu Boycott Innes syndrome (BBIS) (OMIM # 613680). It is characterized by ID with dysmorphic facies, genitourinary, cardiac anomalies, and dentition problems. Here, we report the first two siblings of BBIS from the Indian subcontinent with previously unreported skeletal anomalies such as Sprengel shoulder, calcaneo valgus deformity, radioulnar dysostosis, and overlapping toes. Whole exo...