Results 51 to 60 of about 635 (130)

Ankyloblepharon‐ectodermal defects‐cleft lip/palate syndrome: a case report highlighting the importance of clinical diagnosis in a rare hereditary disorder

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Aikaterini Kyriakou   +7 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

open access: yesDevelopmental Dynamics, Volume 255, Issue 10, Page 931-944, October 2026.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Hereditary ectodermal dysplasia: Report of 11 patients from a family

open access: yesIndian Journal of Dental Research, 2013
Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs) in 11 individuals over two generations in one family.
Seema Vaidya   +3 more
doaj   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

open access: yesMedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song   +4 more
wiley   +1 more source

Loving ACTion: An evaluation of an ACT‐based audio podcast intervention focussed on romantic and intimate relationships for adults with visible differences

open access: yesBritish Journal of Health Psychology, Volume 31, Issue 3, September 2026.
Abstract Objectives Research suggests that some adults with visible differences may experience challenges related to romantic relationships, sex and physical intimacy. Loving ACTion is a self‐guided Acceptance and Commitment Therapy (ACT)‐based intervention delivered as an audio podcast series, co‐produced with adults with visible differences and ...
Maia Thornton   +6 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1719-1725, August 2026.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar   +3 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

La dysplasie ectodermique anhydrotique : à propos d’un cas au Centre Mère et Enfant de la Fondation Chantal Biya, Yaoundé, Cameroun [PDF]

open access: yesThe Pan African Medical Journal, 2010
Ectodermal dysplasia are rare genetic diseases characterized by the absence or dysplasia of some tissues of ectodermal origin. We present a case of a young boy seen at the age of seven and a half years for late eruption of teeth, morphologic ...
Chelo David   +5 more
doaj  

Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report

open access: yesJournal of Medical Case Reports, 2019
Background Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands.
Reema AlNuaimi, Mohammad Mansoor
doaj   +1 more source

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

open access: yesGenetics Selection Evolution, 2003
Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle.
Drögemüller Cord   +2 more
doaj   +1 more source

Home - About - Disclaimer - Privacy