Results 71 to 80 of about 13,529 (217)

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

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

Drug Discovery Approaches to Target E3 Ligases

ChemBioChem, Volume 26, Issue 1, January 2, 2025.
Comprehensive review presenting the different drug discovery approaches that until now have been employed in academic and pharmaceutical settings to identify new E3 ligase small molecules ligands and contributing to the expansion of the targeted protein degradation field. Abstract Targeting E3 ligases is a challenging area in drug discovery.
Alejandra Rodríguez‐Gimeno, Carles Galdeano   +1 more
wiley   +1 more source

Duane Retraction Syndrome and Accompanying Ocular Abnormalities

Beyoglu Eye Journal, 2019
INTRODUCTION[|]Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure in adduction, and may include globe retraction, upshoot or downshoot ...
Murat Kocamaz, Ebru Demet Aygıt, Aslı İnal, Osman Bulut Ocak, Uğur Çiçek, Birsen Gokyigit   +5 more
doaj   +1 more source

High-quality patents for emerging science and technology through external actors: community scientific experts and knowledge societies [PDF]

, 2010
This article explores one type of administrative mechanism to achieve high-quality patents: Article 115 of the European Patent Convention, which permits the inclusion of third parties to provide input to the prior art search and to communicate relevant ...
Groenendijk, Nico, Kica, Evisa, Rodriguez, Victor   +2 more
core   +1 more source

Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia

Journal of Anatomy, Volume 245, Issue 2, Page 217-230, August 2024.
Type III collagen is abundant in the endo and perimysium of control patient muscle (A and E) but is downregulated in RD muscle (I and M). Abstract Radial dysplasia (RD) is a congenital upper limb birth defect that presents with changes to the upper limb anatomy, including a shortened or absent radius, bowed ulna, thumb malformations, a radially ...
George R. F. Murphy, Eleanor Feneck, James Paget, Branavan Sivakumar, Gill Smith, Malcolm P. O. Logan   +5 more
wiley   +1 more source

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

Shiga Toxin Detection Methods : A Short Review [PDF]

, 2013
The Shiga toxins comprise a family of related protein toxins secreted by certain types of bacteria. Shigella dysenteriae, some strain of Escherichia coli and other bacterias can express toxins which caused serious complication during the infection. Shiga
González-Aguilar, G., Guerrero, Y. Castaño   +1 more
core  

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

Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

Case Reports in Ophthalmological Medicine, 2011
Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients.
Mihir Kothari, Florence Manurung, Bhavesh Mithiya   +2 more
doaj   +1 more source