Results 11 to 20 of about 1,654,437 (300)

Hypoparathyroidism: Genetics and Diagnosis

Journal of Bone and Mineral Research, 2020
ABSTRACT This narrative report summarizes diagnostic criteria for hypoparathyroidism and describes the clinical presentation and underlying genetic causes of the nonsurgical forms. We conducted a comprehensive literature search from January 2000 to January 2021 and included landmark articles before 2000, presenting a comprehensive ...
Mannstadt, M, Cianferotti, L, Gafni, RI, Giusti, F, Kemp, EH, Koch, CA, Roszko, KL, Yao, L, Guyatt, GH, Thakker, RV, Xia, W, Brandi, M   +11 more
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Genetics in prenatal diagnosis

Singapore Medical Journal, 2023
The options for prenatal genetic testing have evolved rapidly in the past decade, and advances in sequencing technology now allow genetic diagnoses to be made down to the single-base-pair level, even before the birth of the child. This offers women the opportunity to obtain information regarding the foetus, thereby empowering them to make informed ...
Karen Mei Xian Lim, Aniza Puteri Mahyuddin, Arundhati Tushar Gosavi, Mahesh Choolani   +3 more
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Preimplantation Genetic Diagnosis

Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2022
Preimplantation genetic diagnosis or screening is a very early form of prenatal diagnosis that allows embryos to be tested for genetic disorders before pregnancy has begun. The procedure offers an advantage for couples with genetic disorders whose offspring has an increased risk of a specific genetic condition by helping in the delivery of a healthy ...
Pavelić, Krešimir, Markova-Car, Elitza Petkova   +1 more
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Preimplantation genetic diagnosis [PDF]

International Journal of Gynecology & Obstetrics, 2003
Preimplantation genetic diagnosis (PGD) is an exciting new approach for the prevention of transmission of genetic disorders between generations. The use of genetically screened, healthy embryos to establish a pregnancy avoids the need for termination of an affected pregnancy, a procedure which can be traumatic physically and emotionally for potential ...
G-L, Zhuang, J, Deng, D, Zhang
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The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample [PDF]

, 2008
Background. Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected ...
Anita Caruso, Cristina Vigna, Gabriella Maggi, Fabio Massimo Sega, Francesco Cognetti, Antonella Savarese, JP Struewing, LG Bluman, C Lerman, KA Donovan, C Lerman, K Brain, JL Bottorff, I VanOostrom, M Bruno, K Glanz, KA Johnson, C Lerman, C Lerman, F Gil, K Kelly, AS Zigmond, M Costantini, DH Olson, C Galimberti, C Foster, MJ Esplen, R Kenen, DJ Bowen, D Braithwaite, SJ Durfy, AM Codori, C Lerman, IM Van Der Steenstraten, C Lerman, S Wiggins, C Lerman   +36 more
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Genetic diagnosis in the fetus [PDF]

Journal of Perinatology, 2020
Many genetic disorders are detectable in the prenatal period, and the capacity to identify them has increased remarkably as molecular genetic testing techniques continue to improve and become incorporated into clinical practice. The indications for prenatal genetic testing vary widely, including follow-up of an anomaly found by routine ultrasound or ...
Monica H. Wojcik, Rebecca Reimers, Tabitha Poorvu, Pankaj B. Agrawal   +3 more
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A ‘healthy baby’: The double imperative of preimplantation genetic diagnosis [PDF]

, 2010
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2010 The Authors.This article reports from a study exploring the social processes, meanings and institutions that frame and produce ...
Casper, M.J., Chambliss, D., Clare Williams, Foucault, M., Grint, K., Kathryn Ehrich, Lofland, J., Quintavalle, J., Thompson, C., Williams, C.   +9 more
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Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes [PDF]

, 2017
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made ...
Bogaert, Delfien, Coppieters, Frauke, De Baere, Elfride, De Baets, Frans, De Bruyne, Marieke, De Schryver, Sarah, De Wilde, Hans, Dullaers, Melissa, Haerynck, Filomeen, Kuehn, Hye Sun, Lambrecht, Bart, Leroy, Bart, Niemela, Julie E, Rosenzweig, Sergio D   +13 more
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Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) [PDF]

, 2017
Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease ...
Angelico, F., Arca, M, Averna, M., Bertolini, S, Calandra, S, Casula, M, Catapano, Al, Cefalù, Ab, Del Ben, M., Lipigen, Group, Maranghi, M, Montali, A., Noto, D, Tarugi, P.   +13 more
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Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

BMC Medical Genomics, 2022
Background Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy.
Xiaoqing Wu, Ying Li, Na Lin, Linjuan Su, Xiaorui Xie, Bing Liang, Qingmei Shen, Meiying Cai, Danhua Guo, Hailong Huang, Liangpu Xu   +10 more
doaj   +1 more source