Results 131 to 140 of about 2,525 (203)

Late contralateral recurrence of retinal detachment in incontinentia pigmenti: A case report. [PDF]

World J Clin Cases, 2022
Cai YR, Liang Y, Zhong X.
europepmc   +1 more source

Retinal imaging in incontinentia pigmenti

Indian Journal of Ophthalmology, 2019
Subina Narang, Meenakshi Sindhu, Suksham Jain, Jitender Jinagal   +3 more
doaj   +1 more source

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti. [PDF]

J Clin Med
Cifaldi C, Sgrulletti M, Cesare SD, Rivalta B, Emanuele A, Colucci L, Moscato GMF, Matraxia M, Perrone C, Di Matteo G, Cancrini C, Moschese V.   +11 more
europepmc   +1 more source

The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti. [PDF]

Ophthalmol Retina, 2022
Danford ID, Scruggs BA, Capone A, Trese MT, Drenser KA, Thanos A, Nudleman E, Amphornphruet A, Tipsuriyaporn B, Hubbard GB, Ells A, Harper CA, Goldstein J, Calvo C, Wallace-Carrete C, Berry D, Chang E, Leishman L, Shapiro M, Blair M, Mikhail M, Shields CL, Schwendeman R, Yonekawa Y, Gupta MP, Orlin A, Prakhunhungsit S, Mukai S, Berrocal A, Hartnett ME, Campbell JP.   +30 more
europepmc   +1 more source

Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study. [PDF]

Orphanet J Rare Dis
Herlin LK, Schmidt SAJ, Mogensen TH, Sommerlund M.   +3 more
europepmc   +1 more source

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. [PDF]

Clin Case Rep, 2023
Washington C, Stolerman ES, Cooley-Coleman JA, Jones JR, Chen-Deutsch X.   +4 more
europepmc   +1 more source

Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report. [PDF]

BMC Pediatr, 2022
Kawai M, Sugimoto A, Ishihara Y, Kato T, Kurahashi H.   +4 more
europepmc   +1 more source

Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings. [PDF]

Acta Derm Venereol
Çetinarslan T, Masat AK, Türel Ermertcan A, Fölster Holst R.   +3 more
europepmc   +1 more source

Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti. [PDF]

Ann Indian Acad Neurol
Ananthasubramanian ST, Chanrakant SC, Kumar TS, Rajeswarie RT, Udupi GA, Kenchiah R, Padmanabha H.   +6 more
europepmc   +1 more source

Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids. [PDF]

Neurol Neuroimmunol Neuroinflamm
Mohammad SS, Han V, Gloss B, Keating B, Nishida H, Lau X, Dissanayake R, Patel S, Dale RC.   +8 more
europepmc   +1 more source