Results 91 to 100 of about 22,399 (205)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

A review of evidence on non-invasive prenatal diagnosis (NIPD) : tests for fetal RHD genotype [PDF]

, 2007
This report concentrates on three main areas. First and foremost, we set the background context for RhD NIPD in prenatal care. While the methodology chapter describes how the literature review was carried out and how additional information was collected,
Clay, Diane, Freeman, Karoline, HASH(0x55aa091d4640), Hyde, Julia, Osipenko, Leeza, Szczepura, Ala   +5 more
core  

Chromosomal disorders and male infertility [PDF]

, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.
Harton, Gary L., Tempest, Helen G., Ph.D.   +1 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Preimplantation genetic diagnosis

Journal of the Korean Medical Association, 2015
착상 전 유전진단(preimplantation genetic diagnosis)은 유전질환의 위험이 있는 부부에서 유전병에 이환되지 않은 정상적인 태아를 임신하기 위해 시행되는 방법이다. 기존에 는 유전질환이 있는 가계에서 유전병을 피하기 위해서 피 임을 하거나, 임신 후 산전진단을 통해 태아의 유전병 여부 를 진단하여 이환된 경우 임신중절을 고려할 수밖에 없었다. 산전진단은 임신이 된 후 임신 초기 융모막 융모검사나 임 신중기 양수검사를 통해 얻어진 태아세포에서 유전질환이 나 염색체 이상을 진단하는 방법이므로, 유전질환 또는 염 색체 이상을 가진 태아가 진단될 경우 임신중절을 고려하 는 윤리적 문제 및 고통을 겪게 된다 ...
Jin Young Kim, Hyoung-Song Lee, Inn Soo Kang   +2 more
openaire   +1 more source

Toward Practical Embryo Genomic Selection in Cattle: An Optimized Workflow Enabling High‐Accuracy Breeding Value Prediction Without Compromising Embryo Survival

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
A diameter‐guided workflow was established to define the appropriate trophectoderm (TE) biopsy area window for bovine blastocysts, with the aim of balancing embryo viability and genotyping reliability. After TE biopsy, sampled cells were subjected to DNA amplification and genomic evaluation, while the corresponding biopsied embryos were transferred to ...
Jingyu Zhang, Zhize Liu, Hang Shen, Mengmeng Zhao, Jun Teng, Yubing Wang, Guangyao Liu, Boxuan Ye, Zhenni Zhang, Qin Zhang, Jianhui Tian, Lei An, Yinjuan Wang   +12 more
wiley   +1 more source

Customizing Conception: A Survey of Preimplantation Genetic Diagnosis and the Resulting Social, Ethical, and Legal Dilemmas [PDF]

, 2002
One in six American couples experience difficulties conceiving a child. With fertility rates at an all time low, the business of treating infertility is booming.
Roberts, Jason Christopher
core   +1 more source

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues [PDF]

, 2006
The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics ...
ANASTASIADOU V, AYMÉ S, BRAGA S, CORNEL M, COVIELLO, DOMENICO, ESHG, ESHRE, EVERS KIEBOOMS G, GERAEDTS J, GIANAROLI L, HARPER J, IBARRETA D, KÄÄRIÄINEN H, KOSZTOLANYI G, LUNDIN K, RODRIGUES CEREZO E, SEQUEIROS J, SERMON K, SOINI S, TRANEBJAERG L   +18 more
core   +1 more source

Attitudes Towards and Prevalence of Son Preference and Sex Selection in South Asian American Communities in the United States [PDF]

, 2012
This report summarizes research conducted by Generations Ahead, a social justice non-profit in the United States, within the South Asian American community.
Sujatha Jesudason
core  

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source