Results 111 to 120 of about 5,355 (231)

Components of an effective large scale program for the prevention of inherited hemoglobin disorders; the paradigm of Greece

Thalassemia Reports, 2012
Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes.
D. Loukopoulos, E. Voskaridou, M. Tsalkani   +2 more
doaj   +1 more source

Prenatal Diagnosis of β Thalassaemia Tazeen Anwar*,

Journal of Rawalpindi Medical College, 2014
Background: To study the effectiveness of choronic villous sampling, followed by molecular analysis, for prenatal diagnosis of β thalassaemia Methods: In this descriptive study 116 high risk mothers with 12-16 weeks of pregnancy, underwent choronic ...
Tazeen Anwar
doaj  

Concomitant omphalocele, craniorachischisis and ectopic cordis associated with trisomy 18 diagnosed in first trimester

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present a rare case of trisomy 18 of maternal origin in a pregnancy with omphalocele, craniorachischisis, and ectopia cordis. Case report: A 38-year-old woman, G3P1A1, was diagnosed with fetal anencephaly, an extrathoracic heart (ectopic ...
Yen-Ting Pan, Chih-Ping Chen, Jian-Pei Huang, Liang-Kai Wang, Fang-Tzu Wu, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang   +7 more
doaj   +1 more source

Early onset preeclampsia is characterized by altered placental lipid metabolism and a premature increase in circulating FABP4 [PDF]

, 2010
Preeclampsia is a pregnancy-associated disorder that manifests as a sudden increase in maternal blood pressure accompanied by proteinuria. Because the placenta is a key organ in preeclampsia, we used proteomic and lipidomic analyses to compare placentae ...
Aaron Booy, Delfina Siroen, Gilles Lajoie, Jennifer Ballard, Nicholas Carruthers, Victor H. Han   +5 more
core   +1 more source

Development of Noninvasive Autosomal Recessive Disease Testing in the Saudi Arabian Population

Journal of Disability Research
Early diagnosis of prenatal complications, particularly genetic disorders, can enable early intervention and improve outcomes for both mother and infant.
Malak Abedalthagafi, Eissa Faqeih, Nouf Alajaji, Shahad Bawazeer, Ebtihal AlSolme   +4 more
doaj   +1 more source

International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used [PDF]

, 2017
The development of chromosome-specific probes (CSP) and fluorescent in-situ hybridization (FISH) has allowed for very rapid identification of selected numerical abnormalities.
Babu, R., Bui, T.H., Ebrahim, S.A.D., Evans, M.I., Henry, G.P., Holzgreve, W., Jackson, L., Johnson, A., Johnson, M.P., Miller, W.A., Miny, P., Nicolaides, K., Peakman, D., Snidjers, R.J., Wapner, R.J.   +14 more
core  

Uniparental Disomy and Genome Imprinting: an Overview [PDF]

, 2017
The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution.
Engel, E.
core  

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

The Application of Clinical Genetics, 2014
Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David-Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval ...
Gekas J, Langlois S, Ravitsky V, Audibert F, van den Berg D, Haidar H, Rousseau F   +6 more
doaj  

Modificazioni morfo-strutturali placentari nel ritardo di crescita asimmetrico idiopatico [PDF]

, 2008
Obiettivo: valutare le alterazioni dello sviluppo e della struttura dei villi coriali di placente di gravidanze con ritardo di crescita fetale asimmetrico idiopatico (IUGR) tardivo. Pazienti e metodi: sono state esaminate 45 placente di pazienti con IUGR
Barreca, P.V., Guarnuto, G., Lo Dico, G., Lucido, A.M., Maresi, Emiliano, Orlando, Elisabetta   +5 more
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Jefferson Alumni Bulletin – Volume XXXIV, Number 3, Spring 1985 [PDF]

, 1985
Jefferson Alumni Bulletin – Volume XXXIV, Number 3, Spring 1985 Chorion Villus sampling, Page 2 The Gallos have horse sense, Page 13 Jefferson scene, Page 8 Class notes, Page ...

core   +1 more source