Results 141 to 150 of about 2,525 (203)

Incontinentia pigmenti: What we know and can we manage it as retinopathy of prematurity?

Oman J Ophthalmol, 2022
Al-Farsi N, Al Rashdi A.
europepmc   +1 more source

Incontinentia Pigmenti with Pseudoglioma [PDF]

Proceedings of the Royal Society of Medicine, 1969
openaire   +2 more sources

Case report: Variability in clinical manifestations within a family with incontinentia pigmenti. [PDF]

Front Med (Lausanne)
Belysheva T, Nasedkina T, Kletskaya I, Volchek D, Barinova I, Semenova V, Gadzhigoroeva A, Zelenova E, Valiev T, Sharapova E, Michenko A, Allenova A, Ponomareva D.   +12 more
europepmc   +1 more source

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases. [PDF]

J Exp Med
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL.   +98 more
europepmc   +1 more source

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.

Oman J Ophthalmol, 2022
Madan S, Chaudhuri Z.
europepmc   +1 more source

Central nervous system anomalies in 41 Chinese children incontinentia pigmenti. [PDF]

BMC Neurosci
Yin L, Li Z, Zhan W, Kang Y, Tian Q, Li D, Zhang H.   +6 more
europepmc   +1 more source

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins. [PDF]

Front Pediatr
Lin X, Zhang W, Zhou P.
europepmc   +1 more source

An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing. [PDF]

NPJ Genom Med
Chen M, Tan MH, Liu J, Yang YM, Yu JL, He LJ, Huang YZ, Sun YX, Qian YQ, Yan K, Dong MY.   +10 more
europepmc   +1 more source

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti. [PDF]

J Clin Immunol
Eigemann J, Janda A, Schuetz C, Lee-Kirsch MA, Schulz A, Hoenig M, Furlan I, Jacobsen EM, Zinngrebe J, Peters S, Drewes C, Siebert R, Rump EM, Führer M, Lorenz M, Pannicke U, Kölsch U, Debatin KM, von Bernuth H, Schwarz K, Felgentreff K.   +20 more
europepmc   +1 more source

Incontinentia Pigmenti [PDF]

BMJ, 1952
openaire   +1 more source