Results 121 to 130 of about 1,227,280 (190)

A case of Gorlin syndrome like phenotype with multiple infundibulocystic basal cell carcinomas in a moniliform blepharosis arrangement. [PDF]

JAAD Case Rep, 2023
Petrosian D, Reiter P, Rozenberg SS, Petrosian S.   +3 more
europepmc   +1 more source

A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation. [PDF]

Proc Natl Acad Sci U S A
Liu Y, Yang M, Lu P, Gao H, He M, Wang Y, Qi A, Cao T, Zhang Q, Qi S, Shi Y, Yu H.   +11 more
europepmc   +1 more source

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. [PDF]

Fam Cancer, 2022
Smith MJ, Evans DG.
europepmc   +1 more source

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome. [PDF]

Appl Clin Genet, 2022
Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O.   +4 more
europepmc   +1 more source

Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature. [PDF]

Hered Cancer Clin Pract
Dwarte TM, Alli R, Srinivasa S, Noon F, Perera Kimmantudawage S, Gordon L, Beshay V, Joshua AM, Ruiz Araujo R, Jalilian C, Thomas DM, Smith MJ, Winship I, Ballinger ML, Li M, Tucker KM, Courtney EK.   +16 more
europepmc   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation. [PDF]

BMC Pregnancy Childbirth, 2021
Li X, Zhang LZ, Yu L, Long ZL, Lin AY, Gou CY.   +5 more
europepmc   +1 more source

Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model. [PDF]

Genetics
Balasov M, Akhmetova K, Chesnokov I.
europepmc   +1 more source

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. [PDF]

JCI Insight, 2022
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H.   +28 more
europepmc   +1 more source

Synchronous Cardiac Fibroma and Medulloblastoma in Gorlin Syndrome: A Paradigmatic Case and Narrative Review. [PDF]

Children (Basel)
Molteni M, Trocchio G, Verrico A, Derchi M, Stagnaro N, Di Giannatale A, Ghiorzo P, Montaguti A, Ramaglia A, Milanaccio C, Piccolo G, Garrè ML.   +11 more
europepmc   +1 more source