Results 71 to 80 of about 124,374 (336)
Sri Lanka Journal of MedicineUnilateral ovarian agenesis affects approximately 1 in 11,240 women while bilateral agenesis is even rarer. A 22-year-old Sri Lankan single woman and also a university undergraduate presented with a five-year absence of menstruation.
N. P. Hettiarachchi +3 more
doaj +1 more source
BioTechniques, 2018 Metaphase spread preparation in adult abalone has not been successful, which has restricted the applications of karyotyping-based technologies. Here, we present a non-lethal method to enable preparation of metaphase spreads from live adult abalone using ...
Jun Hyung Ryu +3 more
doaj +1 more source
Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma
PLoS ONE, 2013 Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively.
Stephanie C. Y. Yu +10 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
wiley +1 more source
Generation of New Genotypic and Phenotypic Features in Artificial and Natural Yeast Hybrids
Food Technology and Biotechnology, 2014 Evolution and genome stabilization have mostly been studied on the Saccharomyces hybrids isolated from natural and alcoholic fermentation environments. Genetic and phenotypic properties have usually been compared to the laboratory and reference strains ...
Walter P. Pfliegler +7 more
doaj
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales +6 more
wiley +1 more source
Medical Journal of Dr. D.Y. Patil VidyapeethA rare pigmentation disorder called linear and whorled nevoid hypermelanosis (LWNH) is characterized by macular hyperpigmentation that follows the Blaschko lines.
Banyameen Iqbal +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source