432 related articles for article (PubMed ID: 30157809)
21. Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.
Kawai M; Kato T; Tsutsumi M; Shinkai Y; Inagaki H; Kurahashi H
Mol Genet Genomic Med; 2020 Dec; 8(12):e1531. PubMed ID: 33085210
[TBL] [Abstract][Full Text] [Related]
22. [NEMO Delta 4-10 deletion of NEMO gene in Chinese incontinentia pigmenti cases].
Li L; Song GW; DU JB; Liu JR; Xu FS; Liu XY; Zhang T
Zhonghua Er Ke Za Zhi; 2005 Feb; 43(2):89-92. PubMed ID: 15833158
[TBL] [Abstract][Full Text] [Related]
23. De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report.
Culić V; Gabrić D; Puizina-Ivić N; Rozman K; Peterlin B; Pavelić J
Coll Antropol; 2008 Dec; 32(4):1259-62. PubMed ID: 19149237
[TBL] [Abstract][Full Text] [Related]
24. A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy.
Danescu S; Has C; Baican C; Müller T; Baican A
Australas J Dermatol; 2018 Nov; 59(4):e262-e265. PubMed ID: 29520766
[TBL] [Abstract][Full Text] [Related]
25. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E; Laplantine E; Hamel Y; Dubosclard V; Boisson B; Pescatore A; Picard C; Hadj-Rabia S; Royer G; Steffann J; Bonnefont JP; Ursini VM; Vabres P; Munnich A; Casanova JL; Bodemer C; Weil R; Agou F; Smahi A
J Allergy Clin Immunol; 2017 Dec; 140(6):1671-1682.e2. PubMed ID: 28249776
[TBL] [Abstract][Full Text] [Related]
26. [Incontinentia pigmenti (Bloch-Sulzberger syndrome)].
Mühlenstädt E; Eigelshoven S; Hoff NP; Reifenberger J; Homey B; Bruch-Gerharz D
Hautarzt; 2010 Oct; 61(10):831-3. PubMed ID: 20865235
[TBL] [Abstract][Full Text] [Related]
27. Incontinentia Pigmenti: X-Linked Skin Disorder: A Case Report.
Gelardi L
Neonatal Netw; 2022 Mar; 41(2):89-93. PubMed ID: 35260425
[TBL] [Abstract][Full Text] [Related]
28. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients.
Fusco F; Fimiani G; Tadini G; Michele D; Ursini MV
J Am Acad Dermatol; 2007 Feb; 56(2):264-7. PubMed ID: 17224368
[TBL] [Abstract][Full Text] [Related]
29. [Incontinentia pigmenti. A descriptive study of experience in two different hospitals].
Ocaña Jaramillo S; Del Boz J; Vera Casaño Á
An Pediatr (Engl Ed); 2020 Jan; 92(1):3-12. PubMed ID: 31109788
[TBL] [Abstract][Full Text] [Related]
30. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL; Alawi M; Amor DJ; Tan TY; Cuturilo G; Lissewski C; Brinkmann J; Schanze D; Kutsche K; Zenker M
Am J Med Genet A; 2018 Feb; 176(2):470-476. PubMed ID: 29271604
[TBL] [Abstract][Full Text] [Related]
31. A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.
Sun S; Li F; Liu Y; Qu H; Wong SW; Zeng L; Yu M; Feng H; Liu H; Han D
Arch Oral Biol; 2019 May; 101():100-107. PubMed ID: 30913450
[TBL] [Abstract][Full Text] [Related]
32. Incontinentia pigmenti (Bloch-Sulzberger syndrome).
Narayanan MJ; Rangasamy S; Narayanan V
Handb Clin Neurol; 2015; 132():271-80. PubMed ID: 26564087
[TBL] [Abstract][Full Text] [Related]
33. Incontinentia Pigmenti: A Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols.
Greene-Roethke C
J Pediatr Health Care; 2017; 31(6):e45-e52. PubMed ID: 28870493
[TBL] [Abstract][Full Text] [Related]
34. A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.
Mizuno M; Aso K; Tsuzuki Y; Kitazawa T; Migita O; Hokuto I; Yamamoto H
Eur J Med Genet; 2020 Mar; 63(3):103764. PubMed ID: 31518693
[TBL] [Abstract][Full Text] [Related]
35. Incontinentia Pigmenti: A Comprehensive Review and Update.
Swinney CC; Han DP; Karth PA
Ophthalmic Surg Lasers Imaging Retina; 2015 Jun; 46(6):650-7. PubMed ID: 26114846
[TBL] [Abstract][Full Text] [Related]
36. A case of incontinentia pigmenti in Japan and its genetic examination.
Huang J; Kondo H; Uchio E
Jpn J Ophthalmol; 2007; 51(2):142-5. PubMed ID: 17401626
[TBL] [Abstract][Full Text] [Related]
37. Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene.
Fryssira H; Kakourou T; Valari M; Stefanaki K; Amenta S; Kanavakis E
Acta Paediatr; 2011 Jan; 100(1):128-33. PubMed ID: 20586999
[TBL] [Abstract][Full Text] [Related]
38. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations.
Hadj-Rabia S; Rimella A; Smahi A; Fraitag S; Hamel-Teillac D; Bonnefont JP; de Prost Y; Bodemer C
J Am Acad Dermatol; 2011 Mar; 64(3):508-15. PubMed ID: 21255870
[TBL] [Abstract][Full Text] [Related]
39. PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION.
Pelc M; Ciara E; Jezela-Stanek A; Krajewska-Walasek M
Genet Couns; 2016; 27(3):325-333. PubMed ID: 30204961
[TBL] [Abstract][Full Text] [Related]
40. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
Jaouadi H; Chehida AB; Kraoua L; Etchevers HC; Argiro L; Kasdallah N; Blibech S; Delague V; Lévy N; Tebib N; Mrad R; Abdelhak S; Benkhalifa R; Zaffran S
Genet Res (Camb); 2019 Apr; 101():e6. PubMed ID: 31030682
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]