Results 51 to 60 of about 797 (155)

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be responsible for this syndrome.
Souad Bensaid, Malika Bendahmane, Sara Loddo, Gemma Poke, Louis Januel, Romain Nicolle, Valérie Malan, Nicolas Chatron, Silvia Ottombrino, Maria Lisa Dentici, Antonio Novelli, Maria Cristina Digilio, Damien Sanlaville   +12 more
wiley   +1 more source

The Role of Placental Homeobox Genes in Human Fetal Growth Restriction

Journal of Pregnancy, Volume 2011, Issue 1, 2011., 2011
Fetal growth restriction (FGR) is an adverse pregnancy outcome associated with significant perinatal and paediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. One of the key causes of adverse pregnancy outcome is fetal growth restriction (FGR).
Padma Murthi, Gayathri Rajaraman, Shaun Patrick Brennecke, Bill Kalionis, David F. Lewis   +4 more
wiley   +1 more source

Management of duane retraction syndrome

Journal of the Egyptian Ophthalmological Society, 2019
Background Duane retraction syndrome (DRS) is a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, sometimes limitation of adduction, and globe retraction with palpebral fissure narrowing on adduction ...
Ahmed E.M Ramadan, Ghada Z. El-Abedin Abd El-Rahman Rajab, Abd El-Khalik I El-Saadani, Hatem M Marey   +3 more
doaj   +1 more source

Fertility apps, datafication and knowledge production in reproductive health

Sociology of Health &Illness, Volume 46, Issue 6, Page 1238-1255, July 2024.
Abstract Despite being the target of much criticism, commercialised digital technologies have proliferated in reproductive health arenas. Fertility applications (apps) are now some of the most popular and ubiquitous digital health tracking technologies, with millions of downloads.
Alina Geampana
wiley   +1 more source

The Clinical Features and Management of Duane's Retraction Syndrome Type 2 in Pediatric Patients

Beyoglu Eye Journal, 2017
INTRODUCTION[|]The aim of this study was to describe the demographic details, features, and clinical management of pediatric patients with Duane retraction syndrome (DRS) type 2.[¤]METHODS[|]A total of 632 charts from patients who were diagnosed with DRS
Asli İnal, Osman Bulut Ocak, Ebru Demet Aygit, Selcen Celik, Berkay Inal, Ahmet Demirok, Birsen Gokyigit   +6 more
doaj   +1 more source

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

American Journal of Medical Genetics Part A, Volume 194, Issue 4, April 2024.
Abstract Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p‐22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic ...
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Busa Tiffany, Chantal Missirian, Marjolaine Willems, Sylvie Odent, Josette Lucas, Christele Dubourg, Elise Schaefer, Sophie Scheidecker, James Lespinasse, Alice Goldenberg, Anne‐Marie Guerrot, Géraldine Joly‐Helas, Pascal Chambon, Cédric Le Caignec, Albert David, Charles Coutton, Véronique Satre, Gaëlle Vieville, Florence Amblard, Radu Harbuz, Damien Sanlaville, Marianne Till, Catherine Vincent‐Delorme, Cindy Colson, Joris Andrieux, Sophie Naudion, Jérome Toutain, Caroline Rooryck, Bénédicte de Fréminville, Fabienne Prieur, Valérie Cormier Daire, Daniel Amram, Pascale Kleinfinger, Gisela Raabe‐Meyer, Carolina Courage, Johannes Lemke, Eunice G. Stefanou, Thomaidis Loretta, Manolakos Emmanouil, Sophia Kitsiou Tzeli, Henryka Sodowska, Jasen Anderson, Adayapalam Nandini, Henri Copin, Loïc Garçon, Thomas Liehr, Gilles Morin   +51 more
wiley   +1 more source

Bilateral inverse Duane′s retraction syndrome-A case report

Indian Journal of Ophthalmology, 1991
Duane′s retraction syndrome is a well known congenital musculo-facial anomaly. Various explanations have been given for the aetiology of this syndrome.
Chatterjee Pranab, Bhunia Jagneswar, Bhattacharyya Indranil   +2 more
doaj  

Bilateral inverse globe retraction (Duane′s) syndrome

Indian Journal of Ophthalmology, 2007
A case of true inverse Duane′s retraction syndrome, bilateral inverse globe retraction syndrome apparently due to abnormal innervation, is the subject of this clinical report.
Khan Arif
doaj  

Limbal Dermoid, Lipodermoids and Type 1 Duane’s Retraction Syndrome in a Case of Goldenhar Syndrome

Delhi Journal of Ophthalmology
Goldenhar syndrome (GHS), also described as oculo-auriculo-vertebral dysplasia or hemifacial microsomia, is a rare condition occurring due to a defect in the development of structures derived from the first and second branchial arches.
Vaishali Tomar, Rinky Agarwal, Purva Verma, Subhash Dadeya   +3 more
doaj   +1 more source

Magnetic resonance imaging (MRI) in Duane retraction syndrome

Journal of Clinical Ophthalmology and Research, 2016
Purpose: To study the magnetic resonance imaging (MRI) findings in Duane retraction syndrome (DRS). Materials and Methods: In this case–control study, 16 consecutive cases of Duane syndrome underwent MRI of the brain and orbit, after informed consent ...
Siddharth Agrawal, Vinita Singh, Anit Parihar, Vishal Katiyar, Rajat M Srivastava, Vikas Chahal   +5 more
doaj   +1 more source