Results 91 to 100 of about 8,789 (185)
Tetra-amelia and lung hypo/aplasia syndrome: New case report and review [PDF]
, 2008 Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and ...
Amorim, Marta +12 more
core +1 more source
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
core +1 more source
Cilia in Nervous System Development, Function, and Disease
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley +1 more source
Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction
Case Reports in Medicine, 2009 Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding.
M. Klinger +4 more
doaj +1 more source
Dental implants in patients with oral mucosal alterations : an update [PDF]
, 2011 Objective: To determine whether a series of diseases of the oral mucosa - Sjögren syndrome, ectodermal dysplasia, epidermolysis bullosa and lichen planus - reduce the survival rate of dental implants. Material and Method: A Medline search was carried out
Ata-Ali Mahmud, Francisco Javier +4 more
core +1 more source
Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source
Journal of Medical Case Reports, 2012 Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate).
Metwalley Kalil Kotb, Fargalley Hekma
doaj +1 more source
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
, 2019 Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano +12 more
core +1 more source
Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Ectodermal Dysplasia: A Case Report [PDF]
Alexandria Dental Journal: Ectodermal dysplasia (ED) is an uncommon genetic disorder that results from abnormalities in the development of tissues, organs, and other structures that originate from the embryonic ectoderm.
aliaa Hamouda
doaj +1 more source