Results 131 to 140 of about 3,987,904 (344)

Molecular basis and prenatal diagnosis of beta-thalassemia [PDF]

, 1988
HH Jr Kazazian, C D Boehm
openalex   +1 more source

Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta

The Anatomical Record, EarlyView.
Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller, Tanusha Emanuel, Rachel A. Menegaz   +2 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Scientific Reports
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal
Jianlong Zhuang, Na Zhang, Yu’e Chen, Yuying Jiang, Xinying Chen, Wenli Chen, Chunnuan Chen   +6 more
doaj   +1 more source

The Biopolitics of Prenatal Diagnosis

, 1969
Leslie Marie Vesely
openalex   +2 more sources

Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. [PDF]

, 1980
John A. Phillips, Susan R. Panny, H H Kazazian, C D Boehm, Alan F. Scott, Kirby D. Smith   +5 more
openalex   +1 more source

Dental fluorosis in the European roe deer (Capreolus capreolus): A review of the pathological changes in the enamel of fluorotic cheek teeth and the abnormal pattern of dental wear in affected dentitions

The Anatomical Record, EarlyView.
Abstract This article reviews the pathological changes in the enamel of permanent mandibular cheek teeth and their sequelae in European roe deer from regions polluted by anthropogenic fluoride emissions. The primary (developmental) changes of fluorotic roe deer enamel are hypomineralization and microstructural aberrations, including enamel hypoplasia ...
Uwe Kierdorf, Horst Kierdorf
wiley   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj  

Metabolic profiling and early prediction models for gestational diabetes mellitus in PCOS and non-PCOS pregnant women

European Journal of Medical Research
Background Gestational diabetes mellitus (GDM) is the most common pregnancy complication, significantly affecting maternal and neonatal health. Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic abnormalities ...
Jin Wang, Can Cui, Fei Hou, Zhiyan Wu, Yingying Peng, Hua Jin   +5 more
doaj   +1 more source

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis

Prenatal Diagnosis, 2018

semanticscholar   +1 more source

Pregnancy outcomes in women with systemic sclerosis before and/or after diagnosis, and by parity ‐ A Swedish population‐based cohort study

Arthritis &Rheumatology, Accepted Article.
Objective To assess risks of adverse pregnancy outcomes (APO) in a contemporary cohort of women with systemic sclerosis (SSc) in relation to the timing of SSc diagnosis and by parity. Methods From the nationwide Swedish Medical Birth Register, we assembled pregnancies with births in women with SSc and in comparator women from the general population ...
Weng Ian Che, Luigi Annicchiarico, Laura Andreoli, Olof Stephansson, Marie Holmqvist, Karin Hellgren   +5 more
wiley   +1 more source