Results 91 to 100 of about 19,213 (227)

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +1 more source

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]

, 2019
In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen, Martínez-Cruz, Luis Alfonso, Müller, Dominik, Seker, Murat   +3 more
core   +1 more source

Harlequin baby (A case report)

, 2007
In this article, a full-term male neonate with Harlequin fetus has been reported. It was born from a 20 year old mother by the Caesarean operation. In the clinical examination, broad, thick and hard hyperkeratotic disks were observed all troughs the body
Golalipour, M.J., Mobasheri, E., Mohamadian, S.   +2 more
core   +1 more source

Cranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 5, Page 663-664, May 2026.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 more
wiley   +1 more source

Hyperlipemia in renal disease [PDF]

, 1945
Thesis (M.D.)--Boston ...
Franklin, William
core  

Cues to opening mechanisms from in silico electric field excitation of cx26 hemichannel and in vitro mutagenesis studies in HeLa transfectans [PDF]

, 2018
Connexin channels play numerous essential roles in virtually every organ by mediating solute exchange between adjacent cells, or between cytoplasm and extracellular milieu.
Bruno, Francesca, Buratto, Damiano, Carrer, Andrea, Crispino, Giulia, Mammano, Fabio, Pantano, Sergio, Yang, Guang, Zonta, Francesco   +7 more
core   +1 more source

Kraniale Osteomyelitis bei einer Patientin mit KID‐Syndrom: Notwendigkeit gründlicher Untersuchungen bei chronischen Wunden

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 5, Page 663-665, May 2026.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 more
wiley   +1 more source

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

Romanian Journal of Laboratory Medicine, 2016
Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation
Maier Dalila, Florea Adrian, Tilinca Mariana Cornelia, Zazgyva Ancuța, Cosgarea Rodica   +4 more
doaj   +1 more source

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source

Expanding the Genetic Spectrum of ANOS1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism [PDF]

, 2012
STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)?
Gonçalves, CI, Fonseca, F, Borges, T, Cunha, F, Lemos, MC   +4 more
core   +1 more source