Cargando…

Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis

Detalles Bibliográficos
Autores principales:	Miyashiro, Denis, Torezan, Luis Antonio, Grinblat, Beni Moreinas, Festa Neto, Cyro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Dermatologia 2019
Materias:	Letters
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007026/ https://www.ncbi.nlm.nih.gov/pubmed/31644632 http://dx.doi.org/10.1590/abd1806-4841.20197449

Ejemplares similares

A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
por: Murata, Yuka, et al.
Publicado: (2019)

Cutaneous field cancerization: clinical, histopathological and therapeutic aspects()
por: Torezan, Luís Antônio Ribeiro, et al.
Publicado: (2013)

Two Cases of Uterus Bicornis
por: Watson, B. P.
Publicado: (1910)

Two Cases of Uterus Bicornis
por: Watson, B. P.
Publicado: (1910)

Uterus Bicornis: Removal of Half Uterus and Ovary: Recovery
por: Branfoot,
Publicado: (1898)

Mammary and Extramammary Paget’s Disease: A Study of 14 Cases and the Associated Therapeutic Difficulties
por: Tanaka, Vanessa D. Andretta, et al.
Publicado: (2009)

Spontaneous Twin Pregnancy in Uterus Bicornis Unicollis
por: Doruk, Arzu, et al.
Publicado: (2013)

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature
por: Deng, QingQing, et al.
Publicado: (2022)

Uterus bicornis unicollis; Occurrence of consecutive viable pregnancies in separate horns.
por: Morhason-Bello, IO, et al.
Publicado: (2007)

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
por: Nakase, Yoji, et al.
Publicado: (2020)

Basal Cell Carcinoma with Flexural Predilection in Basal Cell Nevus Syndrome
por: Ashraf, Raihan, et al.
Publicado: (2021)

Panfolliculoma in SUFU-mutated basal cell nevus syndrome
por: Abid, Areeba, et al.
Publicado: (2023)

PTCH mutations in basal cell carcinomas from azathioprine-treated organ transplant recipients
por: Harwood, C A, et al.
Publicado: (2008)

A case of skin lesions of basal cell nevus syndrome
por: Chen, Long, et al.
Publicado: (2021)

Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature
por: Lopez-Porras, Rocío F., et al.
Publicado: (2011)

A Case of Uterus Bicornis with Advanced Pregnancy Complicated by a Large Pelvic Cyst
por: Irvine, G. M.
Publicado: (1936)

Spontaneous twin pregnancy in uterus bicornis unicollis complicated with preeclampsia: A case report
por: Chemlal, Chaymae, et al.
Publicado: (2022)

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
por: Altaraihi, M., et al.
Publicado: (2019)

Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients
por: Martinez, Maria Florencia, et al.
Publicado: (2019)

Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome
por: Pastorino, Lorenza, et al.
Publicado: (2012)

Frameshift mutation in exon 17 of PTCH1 gene in Nevoid basal cell carcinoma syndrome: A case report
por: Aravind, Thara, et al.
Publicado: (2023)

Basal cell nevus syndrome with excessive basal cell carcinomas
por: Kim, Choon Soo, et al.
Publicado: (2021)

Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment
por: Witmanowski, Henryk, et al.
Publicado: (2017)

Two successful spontaneous pregnancies, single and twin, in uterus bicornis unicollis after deep infiltration endometriosis surgery
por: Tsukuda, Luciene K, et al.
Publicado: (2020)

Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data
por: Gianferante, D. Matthew, et al.
Publicado: (2018)

Unexpected phenotype in a frameshift mutation of PTCH1
por: Beltrami, Benedetta, et al.
Publicado: (2019)

Mutation of the PTCH1 gene predicts recurrence of breast cancer
por: Wang, Chih-Yang, et al.
Publicado: (2019)

Becker's nevus associated with basal cell carcinoma: an unusual presentation in a sun-protected area
por: Sahu, Priyadarshini, et al.
Publicado: (2017)

Effects of dehorning on population productivity in four Namibia sub-populations of black rhinoceros (Diceros bicornis bicornis)
por: Chimes, Lucy C., et al.
Publicado: (2022)

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study
por: Soufir, N, et al.
Publicado: (2006)

A novel PTCH1 mutation in a patient with Gorlin syndrome
por: Okamoto, Nana, et al.
Publicado: (2014)

Novel PTCH1 Gene Mutation in a Patient with Gorlin–Goltz Syndrome
por: Ozlu, Emin, et al.
Publicado: (2019)

A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report
por: Hellani, Ali, et al.
Publicado: (2009)

Basal Cell Nevus Syndrome Showing Several Histologic Types of Basal Cell Carcinoma
por: Go, Jae Wan, et al.
Publicado: (2011)

The identification of Theileria bicornis in captive rhinoceros in Australia
por: Yam, Jerald, et al.
Publicado: (2017)

NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma
por: Piccolo, Gianluca, et al.
Publicado: (2022)

Calcified Ovarian Fibromas Complicated with Basal Cell Nevus Syndrome
por: Osaku, Daiken, et al.
Publicado: (2021)

Inpatient dermatological consultations in a university hospital
por: Mancusi, Suzana, et al.
Publicado: (2010)

New mutations and an updated database for the patched‐1 (PTCH1) gene
por: Reinders, Marie G., et al.
Publicado: (2018)

Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
por: Kim, Sung Woo, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_44n7fsscj9oolqd1bdp59gadfd