Search details
1.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Am J Hum Genet
; 109(8): 1472-1483, 2022 08 04.
Article
in English
| MEDLINE | ID: mdl-35931051
2.
Vitamin D status in children with congenital melanocytic nevi.
Pediatr Dermatol
; 41(1): 58-60, 2024.
Article
in English
| MEDLINE | ID: mdl-38018254
3.
Congenital melanocytic naevus syndrome and Dandy-Walker malformation - a mistaken association: case report and literature review.
Neuroradiology
; 65(6): 1077-1086, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37093228
4.
Impact of public exhibition on the perception of birthmarks.
Pediatr Dermatol
; 40(4): 615-620, 2023.
Article
in English
| MEDLINE | ID: mdl-37212633
5.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proc Natl Acad Sci U S A
; 117(26): 15137-15147, 2020 06 30.
Article
in English
| MEDLINE | ID: mdl-32554502
6.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Genet Med
; 23(9): 1636-1647, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34145395
7.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33833411
8.
Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Doc Ophthalmol
; 142(1): 119-126, 2021 02.
Article
in English
| MEDLINE | ID: mdl-32617723
9.
Epidermal choristoma: a case series and review of the literature.
Pediatr Dermatol
; 38(5): 1243-1246, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34338332
10.
Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia.
Pediatr Dermatol
; 37(5): 890-895, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32662096
11.
Response to "Guidance on screening MRI decisions for congenital melanocytic nevi".
J Am Acad Dermatol
; 90(3): e109-e110, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37972654
12.
Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.
J Am Acad Dermatol
; 90(6): 1279-1280, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38360177
13.
Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development.
Pediatr Dermatol
; 36(4): 511-513, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30983016
14.
The biker-glove pattern of congenital melanocytic nevi.
Pediatr Dermatol
; 36(6): 918-921, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-31448441
15.
Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation-negative nodules.
Pediatr Dermatol
; 35(5): e281-e285, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-29999207
16.
MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children.
Br J Cancer
; 116(8): 990-993, 2017 Apr 11.
Article
in English
| MEDLINE | ID: mdl-28253523
17.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34257424
18.
The adverse effect profile of acitretin in a pediatric dermatology population-Longitudinal cohort study and recommendations for monitoring.
J Am Acad Dermatol
; 83(6): 1779-1781, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-32246970
19.
The adverse effect profile of oral azathioprine in pediatric atopic dermatitis, and recommendations for monitoring.
J Am Acad Dermatol
; 72(1): 108-14, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25440430
20.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
J Invest Dermatol
; 144(4): 811-819.e4, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37802293