Results 161 to 170 of about 517,181 (258)

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family. [PDF]

Medicina (Kaunas), 2023
Almazroea A, Ijaz A, Aziz A, Mushtaq Yasinzai M, Rafiullah R, Rehman FU, Daud S, Shaikh R, Ayub M, Wali A.   +9 more
europepmc   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source

Functional study of TGM1 missense mutations in autosomal recessive congenital ichthyosis [PDF]

, 2016
Sanae Numata, Kwesi Teye, Tadashi Karashima, Mitsuhiro Matsuda, Takahiro Hamada, Takashi Hashimoto   +5 more
openalex   +1 more source

Lamellar Ichthyosis: Long-Term Graft Studies On Congenitally Athymic Nude Mice

, 1976
Robert A. Briggaman, Clayton E. Wheeler
openalex   +1 more source

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis [PDF]

, 2017
Serap Dökmeci-Emre, Zihni Ekim Taşkıran, Ayşe Yüzbaşıoğlu, Gizem Önal, Nurten Akarsu, Ayşen Karaduman, Meral Özgüç   +6 more
openalex   +1 more source

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation [PDF]

, 2017
Lynn M. Boyden, Brittany G. Craiglow, Rong Hu, Jing Zhou, John Browning, Lawrence F. Eichenfield, Yen Loo Lim, Minnelly Luu, Linda M. Randolph, Manuel Ginarte, Laura Fachal, L. Rodríguez‐Pazos, Ana Vega, Daniela Krämer, Gil Yosipovitch, Hassan Vahidnezhad, Leila Youssefian, Jouni Uitto, Richard P. Lifton, Amy S. Paller, Leonard M. Milstone, Keith A. Choate   +21 more
openalex   +1 more source

Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study. [PDF]

Dermatol Ther (Heidelb), 2023
Marathe K, Teng JMC, Guenthner S, Bunick CG, Kempers S, Eads K, Castelo-Soccio L, Mendelsohn AM, Raiz J, Murrell DF.   +9 more
europepmc   +1 more source

Harlequin Ichtyosis: A Case Report

Gynecology Obstetrics & Reproductive Medicine, 2009
Harlequin ichthyosis is a severe and usually fatal congenital keratinization disorder. Although it has many characteristic findings on prenatal ultrasound such as a wide gaping mouth, intrauterine growth retardation, short limbs, joint contractures ...
Yetkin Karasu, Tuyan İlhan, Sinan Karadeniz, Orhan Gelişen   +3 more
doaj  

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy. [PDF]

Front Genet, 2022
Zhang L, Hu Y, Lu J, Zhao P, Zhang X, Tan L, Li J, Xiao C, Zeng L, He X.   +9 more
europepmc   +1 more source

The Clinical Spectrum of Congenital Ichthyosis in Sweden: A Review of 127 Cases

, 2003
Anders Vahlquist, Agneta Gånemo, Maritta Hellström Pigg, Marie Virtanen, Per Westermark   +4 more
openalex   +2 more sources