Results 111 to 120 of about 2,436,409 (301)

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family

Hereditas
Background Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light.
Yanan Wang, Yujie Chang, Mingya Gao, Weiwei Zang, Xiaofei Liu   +4 more
doaj   +1 more source

Maternal Dipyrone Exposure and Risk of Major Congenital Malformations, Adverse Perinatal and Postnatal Outcomes: A Population‐Based Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
Pain and fever are common in pregnancy. Dipyrone is widely used in Europe, Latin America, and parts of Asia, but is banned in other countries due to concerns about agranulocytosis. Evidence on its safety in pregnancy remains limited and inconsistent. This study aimed to evaluate whether maternal dipyrone use during the first‐ and third‐trimesters is ...
Itamar Ben Shitrit, Daphna Idan, Ariel Avraham Hasidim, Tal Michael, Amalia Levy, Gali Pariente, Eitan Lunenfeld, Sharon Daniel   +7 more
wiley   +1 more source

Prenatal Prediction of Spinal Muscular Atrophy in Chinese

, 2012
[[abstract]]We used linkage analysis, non-isotope SSCP (single-strand conformation polymorphism) and PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) for prenatal diagnosis of spinal muscular atrophy (SMA).
Lin, Shuan-Pei; Chang, Jan-Gowth; Jong, Yuh-Jyh; Yang, Tzu-Yao; Tsai, Chang-Hai; Wang, Nancy M. ; Li, Hung ; Hsieh-Li, Hsieh-Mei; Hu, Cheur-Jong
core  

False non-paternity in a family for prenatal diagnosis of β-thalassaemia

, 1993
Initial screening for the common β-thalassaemia mutations with allele-specific oligonucleotide probe in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise.
Todd, D, Chan, TPT, Chan, TK, Chan, V, Lau, K   +4 more
core   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source

Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]

Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
core  

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China

The Application of Clinical Genetics
Lulu Meng,1,* Yan Wang,1,* Junqiang Zhang,2,* Ran Zhou,1 Xingxing Wang,3 Fengchang Qiao,1 Qinxin Zhang,1 Cheng Wan,3 Shujing Jiao,3 Ping Hu,1 Zhengfeng Xu11Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical ...
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z   +10 more
doaj  

Identification of important genes related to ferroptosis in early missed abortion based on WGCNA

Scientific Reports
Early missed abortion is defined as a pregnancy of ≤ 12 weeks in which there is a cessation of life in the developing embryo or fetus, leading to its retention within the uterine cavity without being spontaneously expelled promptly.
Yulu Zeng, Jiayi Gan, Jinlian Cheng, Changqiang Wei, Xiangyun Zhu, Shisi Wei, Lihong Pang   +6 more
doaj   +1 more source

Mental Health and Well‐Being Across the Eating Disorder Spectrum—From Milder Symptoms of Disordered Eating Behaviors to Diagnosed Eating Disorders

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective This study examined differences in mental health and well‐being, risk behaviors, suicidality, and social functioning across a proposed eating disorder (ED) spectrum, ranging from no ED symptoms to clinically diagnosed EDs. Methods We examined 44,303 participants in the 18‐year follow‐up in the Danish National Birth Cohort (DNBC‐18 ...
Anne V. Aurup, Andrea Joensen, Else Marie Olsen, Nadia M. Mikkelsen, Stine Danielsen, Pernille Stemann Larsen, Katrine Strandberg‐Larsen   +6 more
wiley   +1 more source

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience

, 2019
What's already known? Prenatal diagnosis of lysosomal storage diseases is important to avoid high morbidity and mortality. What does this study add? Enzyme analysis may be alone used safely for the prenatal diagnosis of lysosomal storage disases.
Canan Unal, Ayse Nur Cakar, Fadıloğlu, Erdem, Erdem Fadiloglu, Incilay Lay, Cakar, Ayse Nur, Hatice Asuman Ozkara, TANAÇAN, ATAKAN, ÜNAL, CANAN, Mehmet Sinan Beksac, Meral Topçu, ÖZKARA, HATİCE ASUMAN, FADILOĞLU, ERDEM, Atakan Tanacan, LAY, İNCİLAY, BEKSAÇ, MEHMET SİNAN, TOPÇU, MERAL   +16 more
core   +1 more source