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Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC.

Am J Med Genet A. 2019 Jun 11. doi: 10.1002/ajmg.a.61260. [Epub ahead of print]


Genotype-phenotype correlation in a large English cohort of autosomal recessive ichthyosis.

Simpson JK, Martinez-Quiepo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA.

Br J Dermatol. 2019 Jun 6. doi: 10.1111/bjd.18211. [Epub ahead of print]


Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA, Peris K, Colombo R, Uitto J.

J Hepatol. 2019 Apr 4. pii: S0168-8278(19)30220-X. doi: 10.1016/j.jhep.2019.03.026. [Epub ahead of print]


Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J.

Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942.


Genetic Susceptibility to Alopecia.

Uitto J.

N Engl J Med. 2019 Feb 28;380(9):873-876. doi: 10.1056/NEJMe1900042. Epub 2019 Feb 13. No abstract available.


Reply to Van Gils and Vanakker.

Li Q, Uitto J.

J Invest Dermatol. 2019 Jan 17. pii: S0022-202X(19)30018-1. doi: 10.1016/j.jid.2019.01.003. [Epub ahead of print] No abstract available.


Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.

Huang J, Snook AE, Uitto J, Li Q.

J Invest Dermatol. 2019 Jun;139(6):1254-1263. doi: 10.1016/j.jid.2018.12.017. Epub 2019 Jan 11.


Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J.

Hum Mutat. 2019 Mar;40(3):288-298. doi: 10.1002/humu.23695. Epub 2019 Jan 16.


A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

Vahidnezhad H, Youssefian L, Saeidian AH, Mansoori B, Jazayeri A, Azizpour A, Hesari KK, Yousefi M, Zeinali S, Jouanguy E, Casanova JL, Uitto J.

J Invest Dermatol. 2019 May;139(5):1195-1198. doi: 10.1016/j.jid.2018.11.011. Epub 2018 Nov 29. No abstract available.


Trauma-Induced Nanohydroxyapatite Deposition in Skeletal Muscle is Sufficient to Drive Heterotopic Ossification.

Moore-Lotridge SN, Li Q, Gibson BHY, Martin JT, Hawley GD, Arnold TH, Saito M, Tannouri S, Schwartz HS, Gumina RJ, Cates JMM, Uitto J, Schoenecker JG.

Calcif Tissue Int. 2019 Apr;104(4):411-425. doi: 10.1007/s00223-018-0502-5. Epub 2018 Dec 4.


Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa.

Uitto J, Atanasova VS, Jiang Q, South AP.

J Investig Dermatol Symp Proc. 2018 Dec;19(2):S74-S76. doi: 10.1016/j.jisp.2018.09.004.


Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment.

Li Q, Uitto J.

J Investig Dermatol Symp Proc. 2018 Dec;19(2):S106-S107. doi: 10.1016/j.jisp.2018.10.007.


Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J.

Matrix Biol. 2018 Nov 18. pii: S0945-053X(18)30345-7. doi: 10.1016/j.matbio.2018.11.006. [Epub ahead of print]


A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.

Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J.

Hum Mutat. 2019 Feb;40(2):217-229. doi: 10.1002/humu.23686. Epub 2018 Dec 1.


Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.

Li Q, van de Wetering K, Uitto J.

Am J Pathol. 2019 Feb;189(2):216-225. doi: 10.1016/j.ajpath.2018.09.014. Epub 2018 Nov 7. Review.


Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders.

Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J.

J Invest Dermatol. 2019 Mar;139(3):522-527. doi: 10.1016/j.jid.2018.10.017. Epub 2018 Oct 28.


Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum.

Li Q, Uitto J.

J Invest Dermatol. 2018 Nov;138(11):2301-2304. doi: 10.1016/j.jid.2018.07.007.


Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.

Abdollahimajd F, Rajabi F, Shahidi-Dadras M, Saket S, Youssefian L, Vahidnezhad H, Uitto J.

Br J Dermatol. 2018 Oct 11. doi: 10.1111/bjd.17276. [Epub ahead of print]


Pseudoxanthoma elasticum: Dermoscopy and mutation analysis.

Salas-Alanis JC, Cepeda-Valdes R, Fortuna G, Li Q, Uitto J.

Australas J Dermatol. 2019 May;60(2):e156-e158. doi: 10.1111/ajd.12930. Epub 2018 Sep 19. No abstract available.


Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases.

Vahidnezhad H, Youssefian L, Jazayeri A, Uitto J.

J Invest Dermatol. 2018 Sep;138(9):1893-1900. doi: 10.1016/j.jid.2018.06.170. Review.


Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, Sundberg JP, Uitto J.

J Invest Dermatol. 2019 Feb;139(2):360-368. doi: 10.1016/j.jid.2018.07.030. Epub 2018 Aug 18.


Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ).

Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J.

Oncotarget. 2018 Jul 20;9(56):30721-30730. doi: 10.18632/oncotarget.10738. eCollection 2018 Jul 20.


The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL.

J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.


Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.

Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab Hesari K, Zeinali S, de Jong SJ, Orth G, Blanchet-Bardon C, Jouanguy E, Casanova JL, Uitto J.

J Invest Dermatol. 2019 Jan;139(1):241-244. doi: 10.1016/j.jid.2018.07.010. Epub 2018 Jul 20. No abstract available.


Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J.

Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3.


Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

de Jong SJ, Imahorn E, Itin P, Uitto J, Orth G, Jouanguy E, Casanova JL, Burger B.

Front Microbiol. 2018 Jun 12;9:1222. doi: 10.3389/fmicb.2018.01222. eCollection 2018.


The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

Youssefian L, Vahidnezhad H, Touati A, Ziaee V, Saeidian AH, Pajouhanfar S, Zeinali S, Uitto J.

BMC Med Genet. 2018 May 25;19(1):87. doi: 10.1186/s12881-018-0581-1.


Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.

Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E.

J Invest Dermatol. 2018 Aug;138(8):1736-1743. doi: 10.1016/j.jid.2018.04.032. Epub 2018 Jun 27.


Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.

Has C, Nyström A, Saeidian AH, Bruckner-Tuderman L, Uitto J.

Matrix Biol. 2018 Oct;71-72:313-329. doi: 10.1016/j.matbio.2018.04.001. Epub 2018 Apr 5. Review.


Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue?

Uitto J, Li Q.

J Am Coll Cardiol. 2018 Mar 13;71(10):1127-1129. doi: 10.1016/j.jacc.2018.01.018. No abstract available.


Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.

Saeidian AH, Youssefian L, Moreno Trevino MG, Fortuna G, Vahidnezhad H, Atanasova VS, Uitto J, Salas-Alanis JC, South AP.

Clin Exp Dermatol. 2018 Jul;43(5):579-584. doi: 10.1111/ced.13407. Epub 2018 Feb 23.


First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.

Saeidian AH, Youssefian L, Rosales-Solis GM, Vahidnezhad H, Atanasova VS, Uitto J, South AP, Salas-Alanis JC.

Clin Exp Dermatol. 2018 Aug;43(6):719-722. doi: 10.1111/ced.13400. Epub 2018 Feb 9. No abstract available.


EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.

Uitto J, Bruckner-Tuderman L, McGrath JA, Riedl R, Robinson C.

J Invest Dermatol. 2018 May;138(5):1010-1016. doi: 10.1016/j.jid.2017.12.016. Epub 2018 Jan 31.


Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, Norouz-Zadeh S, Amirinezhad N, Mozafari N, Daneshpazhooh M, Mahmoudi H, Hamid M, Bradfield JP, Kim CE, Hakonarson H, Uitto J.

Exp Dermatol. 2018 Jan 24. doi: 10.1111/exd.13501. [Epub ahead of print]


The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa.

Uitto J.

J Invest Dermatol. 2018 May;138(5):1029-1031. doi: 10.1016/j.jid.2017.12.009. Epub 2017 Dec 16.


A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.

Youssefian L, Touati A, Saeidian AH, Zargari O, Zeinali S, Vahidnezhad H, Uitto J.

Orphanet J Rare Dis. 2017 Dec 6;12(1):176. doi: 10.1186/s13023-017-0728-8.


The Importance of Research Data Sharing: The Meeting Reports Section of the JID.

Uitto J, Udey MC.

J Invest Dermatol. 2017 Dec;137(12):2455-2456. doi: 10.1016/j.jid.2017.10.010. No abstract available.


Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J.

Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11.


Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects.

Youssefian L, Touati A, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J.

Br J Dermatol. 2018 Mar;178(3):e219-e221. doi: 10.1111/bjd.16053. Epub 2018 Jan 22. No abstract available.


Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J.

Eur J Hum Genet. 2017 Nov;25(11):1282-1285. doi: 10.1038/ejhg.2017.137. Epub 2017 Sep 6.


Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.

Uitto J, Youssefian L, Vahidnezhad H.

Br J Dermatol. 2017 Aug;177(2):342-343. doi: 10.1111/bjd.15689. No abstract available.


Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M, Barzegar M, Aghazadeh N, Mahmoudi H, Norouz-Zadeh S, Hamid M, Zahabiyon M, Bagherian H, Zeinali S, Fortina P, Uitto J.

J Invest Dermatol. 2017 Dec;137(12):2649-2652. doi: 10.1016/j.jid.2017.07.830. Epub 2017 Aug 19. No abstract available.


Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration.

Alexeev V, Salas-Alanis JC, Palisson F, Mukhtarzada L, Fortuna G, Uitto J, South A, Igoucheva O.

J Invest Dermatol. 2017 Nov;137(11):2298-2308. doi: 10.1016/j.jid.2017.07.002. Epub 2017 Jul 20.


Plasma PPi Deficiency Is the Major, but Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE.

Zhao J, Kingman J, Sundberg JP, Uitto J, Li Q.

J Invest Dermatol. 2017 Nov;137(11):2336-2343. doi: 10.1016/j.jid.2017.06.006. Epub 2017 Jun 23.


Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.

Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP.

J Invest Dermatol. 2017 Sep;137(9):1842-1849. doi: 10.1016/j.jid.2017.05.011. Epub 2017 May 24. Review.


Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA.

Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7. No abstract available.


Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.

Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA.

JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202.


Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016.

Uitto J, Li Q, van de Wetering K, Váradi A, Terry SF.

J Invest Dermatol. 2017 Apr;137(4):790-795. doi: 10.1016/j.jid.2016.12.014. Review.


Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.

Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J.

Am J Gastroenterol. 2017 Feb;112(2):396-398. doi: 10.1038/ajg.2016.533. No abstract available.


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