Results 51 to 60 of about 279,200 (174)

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Septo-optic dysplasia with lissencephaly [PDF]

, 2012
Septo –optic dysplasia with lissencephaly rarely occurs simultaneously. We describe such a patient presenting with absent visual fixation, mild developmental delay, ophthalmological examination revealed small pale optic disc with typical double rim and B/
Kumar Amritanshu
core  

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders

Frontiers in Endocrinology, 2023
Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory bulb formation as well as defects in GnRH neuron migration.
Julian Martinez-Mayer, Maria Ines Perez-Millan   +1 more
doaj   +1 more source

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, Volume 28, Issue 3, Page 155-167, July 2026.
ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza, Alex Grammatis, Philippa Sangster, Jackson Kirkman‐Brown   +3 more
wiley   +1 more source

Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils

American Journal of Perinatology Reports, 2016
Introduction We describe a newborn female infant with septo-optic dysplasia (SOD) presenting with bilateral dilated and fixed pupils. Conclusion Our report is unique because the incidental finding of bilateral dilated and fixed pupils on the
Mehnaz Jabeen, Amber Hairfield, Leonard E. Swischuk, Sunil K. Jain   +3 more
doaj   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, Volume 40, Issue 3, Page 414-425, March 2026.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Septo-optic Dysplasia- Case Report [PDF]

, 2015
The clinical triad of septo-optic dysplasia (SOD) comprises the absence of the septum pellucidum, congenital optic nerve dysplasia, and multiple endocrine disorders.
Marcondes A.M., De Tarso P. Pierre Filho P., Bovo L.B.   +2 more
core  

An Unusual Case of Septo-Optic Dysplasia Presenting With Optic Nerve Disc Edema and Fovea Hypoplasia

, 2022
Septo-optic dysplasia (SOD) is a condition that affects the early development of the brain and eyes. The most common presenting symptoms include hypoplasia of the optic nerve, abnormal midline structures of the brain, and pituitary gland hypoplasia. Here
Richard Sather III; Sandra Montezuma; Dorothy Thompson
core  

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 35-58, January 2026.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca E. Russell   +4 more
wiley   +1 more source