Results 191 to 200 of about 2,524,105 (337)

Spectrum of Chromosomal Abnormalities in Abortus and Medically Terminated Fetal Samples From a Tertiary Care Center in the Sub-Himalayan Region of North India. [PDF]

Cureus
Malhotra R, Jadli M, Bahadur A, Vatsa M, Singh R, Chaturvedi J, Mathuria YP, Jakhar B, Singla M, Chowdhury N.   +9 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Analysis of Risk Factors and Prediction Model of Chromosomal Abnormalities in Embryos from Patients with Missed Miscarriage. [PDF]

Int J Womens Health
Wei M, Wei Q, Xu X, Liu S, Zhao X, Zeng Z, Dai Y, Ainiwaer P, Zhang J.   +8 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Elements of Chromosome Abnormalities [PDF]

Postgraduate Medical Journal, 1964
openaire   +2 more sources

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study. [PDF]

Front Endocrinol (Lausanne)
Fu D, Wu Q, Ju Y, Jiang M, Zhang S.
europepmc   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study [PDF]

, 2006
Waters, JJ, Nicolaides, KH, Chitty, LS, Molina, FS, Kagan, KO   +4 more
core  

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency? [PDF]

Arch Gynecol Obstet
Su L, Zhao W, Huang H, Li Y, Xie X, Cai M, Zheng L, Xu L, Wu X.   +8 more
europepmc   +1 more source