Search Results - "Hadj-Rabia, S."

Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.

Authors: Bal E Park HS Belaid-Choucair Z et al.

Source: Nature medicine [Nat Med] 2025 Apr; Vol. 31 (4), pp. 1364.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; PubMed not MEDLINE

Dyadic adjustment and quality of life in Albinism: A pilot study on their shared lived experiences with their loved ones.

Authors: Fournier H Pillaud N Hasdenteufel M et al.

Source: Presse medicale (Paris, France : 1983) [Presse Med] 2026 Jun 06; Vol. 55 (3), pp. 104363. Date of Electronic Publication: 2026 Jun 06.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Masson Country of Publication: France NLM ID: 8302490 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-0276 (Electronic) Linking ISSN: 07554982 NLM ISO Abbreviation: Presse Med Subsets: MEDLINE

Lymphoedema is a potential sequela of Kaposiform haemangioendothelioma: reply from the authors.

Authors: Boccara O Hadj-Rabia S Bourrat E et al.

Source: The British journal of dermatology [Br J Dermatol] 2016 Oct; Vol. 175 (4), pp. 834. Date of Electronic Publication: 2016 Aug 11.

Publication Type: Letter; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE

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From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.

Authors: Mercier, Elina Trégouët, David-Alexandre Campagne, Sébastien et al.

Source: PLoS Genetics. 9/25/2025, Vol. 21 Issue 9, p1-26. 26p.

Therapeutic p63 isoform switching rescues epidermal defects in AEC syndrome.

Authors: Di Girolamo D Urciuoli G Sol S et al.

Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2026 Apr 01; Vol. 34 (4), pp. 2324-2342. Date of Electronic Publication: 2025 Dec 24.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-0024 (Electronic) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE

Therapeutic patient education through digital technology: Recommendations for paediatrics and dermatology.

Authors: Dufresne H Godot C Mashiah J et al.

Source: Annales de dermatologie et de venereologie [Ann Dermatol Venereol] 2026 Mar; Vol. 153 (1), pp. 103419. Date of Electronic Publication: 2026 Jan 07.

Publication Type: Journal Article

Journal Info: Publisher: Masson Country of Publication: France NLM ID: 7702013 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0151-9638 (Print) Linking ISSN: 01519638 NLM ISO Abbreviation: Ann Dermatol Venereol Subsets: MEDLINE

The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity.

Authors: Nguyen TN Ribes S Andrique C et al.

Source: Journal of dental research [J Dent Res] 2026 Mar; Vol. 105 (3), pp. 385-395. Date of Electronic Publication: 2025 Jul 27.

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 0354343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1544-0591 (Electronic) Linking ISSN: 00220345 NLM ISO Abbreviation: J Dent Res Subsets: MEDLINE

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl.

Authors: Lin, Han-Yi Lee, Ni-Chung Tsai, Meng-Ju Melody et al.

Source: Journal of Clinical Research in Pediatric Endocrinology. 2026 Suppl, Vol. 18, p6-11. 6p.

A Signaling-Threshold Framework for Human Tooth Agenesis: Integrating Molecular Genetics with Developmental Field Theory.

Authors: Kuc, Anna Ewa Kuc, Paulina Kuc, Natalia et al.

Source: International Journal of Molecular Sciences. May2026, Vol. 27 Issue 10, p4528. 15p.

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Authors: Cavadias I Viaud M Falampin M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 11; Vol. 20 (1), pp. 117. Date of Electronic Publication: 2025 Mar 11.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Triple A syndrome: Non-sense c.884G>A mutation making sense through its clinical triad.

Authors: Roy, Anurag Datta, Soumyadeep Sojitra, Vatsal Jayantbhai et al.

Source: Indian Journal of Medical Sciences. Jan-Mar2026, Vol. 78 Issue 1, p1-5. 5p.

Are Estrogens Involved in the Earlier Onset of Psoriasis in Girls? Comment on Cassalia et al. How Hormonal Balance Changes Lives in Women with Psoriasis. J. Clin. Med. 2025, 14 , 582.

Authors: Urbina, Francisco¹ (AUTHOR)

Source: Journal of Clinical Medicine. Jan2026, Vol. 15 Issue 1, p84. 6p.

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.

Authors: Vitale, Rossella Capozza, Manuela Filannino, Antonia et al.

Source: Italian Journal of Pediatrics. 7/8/2025, Vol. 51 Issue 1, p1-7. 7p.

The tryptophan-serotonin axis in albinism: an interesting lead?

Authors: Gendrot B Falabrègue M Huet C et al.

Source: The British journal of dermatology [Br J Dermatol] 2025 Nov 18; Vol. 193 (6), pp. 1251-1253.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN: 1365-2133 (Electronic) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE; In Process

Absence of Tears as a Key Clinical Clue to Triple A Syndrome: A Case Report.

Authors: Musa, Salwa A. Hassan, Samar S. Koehler, Katrin et al.

Source: Sudan Journal of Medical Sciences. 2026, Vol. 21 Issue 2, p1-8. 8p.

Management of incontinentia pigmenti retinopathy.

Authors: Tseng RMWW Yonekawa Y Zafar S et al.

Source: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2026 Jul; Vol. 264 (7), pp. 1963-1974. Date of Electronic Publication: 2026 Mar 12.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-702X (Electronic) Linking ISSN: 0721832X NLM ISO Abbreviation: Graefes Arch Clin Exp Ophthalmol Subsets: MEDLINE; In Process

Health-related quality-of-life evaluation in epidermolysis bullosa: a scoping review protocol.

Authors: Arias-Merino, Greta Benito-Lozano, Juan Linertová, Renata et al.

Source: Systematic Reviews. 8/1/2025, Vol. 14 Issue 1, p1-5. 5p.

Author Index to Volume 11.

Source: European Journal of Human Genetics. Dec2003, Vol. 11 Issue 12, p976-981. 6p.

Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab.

Authors: Uchiyama, Eri Takeda, Kiminobu Ono, Hiroto et al.

Source: Journal of Cutaneous Immunology & Allergy. 2025, p1-6. 6p.