Results 81 to 90 of about 2,478 (209)

The Reliability of Ultrasound Markers in Identifying Fetuses With a Life‐Limiting Skeletal Dysplasia

Prenatal Diagnosis, Volume 44, Issue 11, Page 1318-1326, October 2024.
ABSTRACT Objective To determine the diagnostic performance of ultrasound markers associated with life‐limiting fetal skeletal dysplasia in a fortified cohort. Methods Retrospective review from 2013 to 2023 of pregnancies with suspected fetal skeletal dysplasia.
Haley M. Crane, Erica Schindewolf, Natalie Burrill, Suzanne Debari, Nahla Khalek, Christina Paidas Teefey, Shelly Soni, Beverly Coleman, Julie S. Moldenhauer, Juliana Gebb   +9 more
wiley   +1 more source

Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual [PDF]

, 2011
Achondroplasia adalah penyebab paling umum kekerdilan manusia yang beranggota pendek dan mempengaruhi seramai 250,000 orang di seluruh ...
Lee , Ling Sze
core   +2 more sources

Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 64, Issue 5, Page 467-474, October 2024.
Background Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed. Aims Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread ...
Alice Rogers, Lucas De Jong, Wendy Waters, Lesley H. Rawlings, Keryn Simons, Song Gao, Julien Soubrier, Rosalie Kenyon, Ming Lin, Rob King, David M. Lawrence, Peter Muller, Shannon Leblanc, Lesley McGregor, Suzanne C. E. H. Sallevelt, Jan Liebelt, Tristan S. E. Hardy, Janice M. Fletcher, Hamish S. Scott, Abhi Kulkarni, Christopher P. Barnett, Karin S. Kassahn   +21 more
wiley   +1 more source

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

Case Reports in Endocrinology, 2021
Background. Growth hormone (GH) treatment increases the adult height of short children born small for gestational age (SGA). Catch-up growth is associated with a younger age, shorter height, and prepubertal status at the onset of GH treatment.
Daniel J. Olivieri, Lauren J. Massingham, Jennifer L. Schwab, Jose Bernardo Quintos   +3 more
doaj   +1 more source

Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]

, 2020
Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan, Gordon, Jonathan S, Maynes, Elizabeth J, O\u27Malley, Thomas J, Phan, Kevin, Sukhavasi, Amrita, Tchantchaleishvili, Vakhtang   +6 more
core   +1 more source

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders

Prenatal Diagnosis, Volume 44, Issue 10, Page 1179-1197, September 2024.
Abstract Objective Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). However, interpretation remains challenging due to the limited prenatal data for genetic disorders. Method We
Christel Thauvin‐Robinet, Aurore Garde, Julian Delanne, Caroline Racine, Thierry Rousseau, Emmanuel Simon, Michel François, Sebastien Moutton, Odent Sylvie, Chloe Quelin, Godelieve Morel, Alice Goldenberg, Anne‐Marie Guerrot, Gabriella Vera, Nicolas Gruchy, Cindy Colson, Odile Boute, Carine Abel, Audrey Putoux, Jeanne Amiel, Agnes Guichet, Bertrand Isidor, Caroline Deiller, Constance Wells, Caroline Rooryck, Marine Legendre, Christine Francannet, Rodolphe Dard, Sabine Sigaudy, Ange‐Line Bruel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Marie‐Laure Humbert Asensio, Christine Binquet, Yannis Duffourd, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran‐Mau‐Them, Nicolas Bourgon   +40 more
wiley   +1 more source

FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]

, 2017
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam, Bannasch, Danika L, Brown, C Titus, Brown, Emily A, Dickinson, Peter J, Ettinger, Cassandra L, Korff, Courtney, Lind, Jenna, Mansour, Tamer, Pollard, Rachel, Raudsepp, Terje, Sturges, Beverly K, Varon, Samuel, Young, Amy E   +13 more
core   +2 more sources

Three-Dimensional Prenatal Ultrasonography of Thanatophoric Dysplasia: Initial Experience at Siriraj Hospital

Siriraj Medical Journal, 2007
Objective: To initially report the prenatal diagnosis of thanatophoric dysplasia (TD) by using both 2 dimensional (2D-US) and 3 dimensional (3D-US) ultrasonography.
Anuwat Sutanthavibul, Prapat Wanitpongpan, Prasert Sunsaneevithayakul   +2 more
doaj  

Global hotspots and trends in Acanthosis nigricans research: A bibliometric and visualized analysis

Skin Research and Technology, Volume 30, Issue 9, September 2024.
Abstract Background Acanthosis nigricans (AN) is a common skin disease characterized by clear pigmented patches on the folds of the skin. However, the AN research field lacks scientific and comprehensive bibliometric analysis. This article aims to use bibliometric methods to summarize and visualize the distribution patterns, research hotspots, and ...
Shaobo Zhang, Huixin Yan, Weichen Sun, Jingnan Li, Jing Xu, Di Cao, Bailin Song, Xingquan Wu   +7 more
wiley   +1 more source

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). Case Report: A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation
Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source