Results 151 to 160 of about 3,858 (212)

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +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

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

Clinical relevance of loss-of-function mutations of <i>NEMO</i>/<i>IKBKG</i>. [PDF]

Genes Dis
Wang J, Shen K, Lou H, Zhou L, An Y, Zhao X, Ding Y.   +6 more
europepmc   +1 more source

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review. [PDF]

Front Pediatr
Zhang Y, Shi X, Xiao X, Yuan S, Tang J.
europepmc   +1 more source

Incontinentia Pigmenti: A Series of Six Cases with Isolated Cutaneous Involvement. [PDF]

Indian Dermatol Online J
Katakam BK, Gurram NRN, Chintagunta S, Dhabal A.   +3 more
europepmc   +1 more source

A Linear Affair: Blaschkoid Pattern in Lichen Planus Pigmentosus. [PDF]

Cureus
J B J, Vignesh A, Sundaram M, Rangarajan S, Swaminathan A.   +4 more
europepmc   +1 more source

PEDIATRIC MACULAR HOLE ASSOCIATED WITH VITREORETINAL TRACTION ON EPIRETINAL LESIONS: A CASE REPORT AND LITERATURE REVIEW. [PDF]

Retin Cases Brief Rep
Said RB, Kraker JA, Trejo-Lopez J, Salomao DR, Scruggs BA.   +4 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