Sophie Guez
Overview
Explore the profile of Sophie Guez including associated specialties, affiliations and a list of published articles.
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Articles
28
Citations
276
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Recent Articles
1.
Yahya V, Monfrini E, Celato A, Botti I, Guez S, Scola E, et al.
Neurol Sci
. 2024 Dec;
46(3):1395-1398.
PMID: 39715963
Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We...
2.
Guez S, Tambuzzi S, Barbara G, Micci L, Marchisio P, Somigliana E, et al.
Pediatr Dermatol
. 2024 Dec;
PMID: 39682038
Munchausen syndrome by proxy is extremely difficult to diagnose. A case is presented of a 17-month-old girl who repeatedly sustained cold burns caused by a spray deodorant and inflicted by...
3.
Castronovo P, Aleo S, Seresini A, Grilli F, Brunati E, Marchisio P, et al.
Genes (Basel)
. 2022 Dec;
13(12).
PMID: 36553464
Kyphoscoliotic Ehlers-Danlos syndrome and 17p13.3 microduplication share multiple clinical features such as muscle hypotonia, cleft palate, and growth impairment. This paper describes a patient who was first diagnosed with the...
4.
Rodari G, Guez S, Salera S, Ulivieri F, Tadini G, Brena M, et al.
PLoS One
. 2022 Sep;
17(9):e0274072.
PMID: 36067143
Background: Delayed puberty is a possible complication of Epidermolysis Bullosa (EB), though the actual incidence is still unknown. In chronic illnesses delayed puberty should be correctly managed since, if untreated,...
5.
Baldo F, Brena M, Carbogno S, Minoia F, Lanni S, Guez S, et al.
Pediatr Rheumatol Online J
. 2021 Jul;
19(1):115.
PMID: 34301279
No abstract available.
6.
Baldo F, Brena M, Carbogno S, Minoia F, Lanni S, Guez S, et al.
Pediatr Rheumatol Online J
. 2021 Jun;
19(1):80.
PMID: 34082764
Background: Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of...
7.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, et al.
Genes (Basel)
. 2021 Jan;
12(1).
PMID: 33435499
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have...
8.
DE Stefano S, Grassi F, Lalatta F, Scuvera G, Brena M, Grillo P, et al.
Ital J Dermatol Venerol
. 2020 Oct;
156(5):580-587.
PMID: 33034432
Background: Living with a rare disease has profound effects on the patient's life and that of their entire family, with practical and psychosocial consequences. This is particularly true when the...
9.
Cacciatori E, Lelii M, Russo S, Alari V, Masciadri M, Guez S, et al.
Am J Med Genet A
. 2020 Sep;
182(12):2982-2987.
PMID: 32954625
Rett syndrome (RTT, MIM * 312750) is an X-linked neurodevelopmental disorder caused by pathogenic variants at the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2, MIM * 300005). The...
10.
Carrabba G, Tariciotti L, Guez S, Calderini E, Locatelli M
Lancet
. 2020 Apr;
395(10234):e76.
PMID: 32333840
No abstract available.