Novel mutations in ZP1 : Expanding the mutational spectrum associated with empty follicle syndrome in infertile women

2021 ◽  
Author(s):  
Ling Wu ◽  
Menghui Li ◽  
Mingru Yin ◽  
Yangjie Ou ◽  
Zhiguang Yan ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Infertile Women ◽  
Mutational Spectrum ◽  
Empty Follicle Syndrome

scholarly journals Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida

2020 ◽  
Vol 37 (11) ◽  
pp. 2853-2860
Author(s):  
Geng Luo ◽  
Lixia Zhu ◽  
Zhenxing Liu ◽  
Xue Yang ◽  
Qingsong Xi ◽  
...  
Keyword(s):  
Zona Pellucida ◽  
Novel Mutations ◽  
Primary Infertility ◽  
Empty Follicle Syndrome

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options

2008 ◽  
Vol 246 (10) ◽  
pp. 1441-1447 ◽  
Author(s):  
Claudia Gruenauer-Kloevekorn ◽  
Saskia Braeutigam ◽  
Wolfram Heinritz ◽  
Ursula G. Froster ◽  
Gernot I. W. Duncker
Keyword(s):  
Corneal Dystrophy ◽  
Therapeutic Options ◽  
Novel Mutations ◽  
Mutational Spectrum ◽  
Macular Corneal Dystrophy

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population

2009 ◽  
Vol 121 (1) ◽  
pp. 257-260 ◽  
Author(s):  
Eva Esteban Cardeñosa ◽  
Pascual Bolufer Gilabert ◽  
Inmaculada de Juan Jimenez ◽  
Sarai Palanca Suela ◽  
Eva Barragán González ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Brca1 And Brca2 ◽  
Mutational Spectrum ◽  
High Incidence

scholarly journals Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Agnieszka Gach ◽  
Iwona Pinkier ◽  
Maria Szarras-Czapnik ◽  
Agata Sakowicz ◽  
Lucjusz Jakubowski
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Novel Mutations ◽  
Mutational Spectrum

scholarly journals Further Evidence of Mutational Heterogeneity of theXPCGene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Mariem Ben Rekaya ◽  
Manel Jerbi ◽  
Olfa Messaoud ◽  
Ahlem Sabrine Ben Brick ◽  
Mohamed Zghal ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Founder Effect ◽  
Xeroderma Pigmentosum ◽  
Direct Sequencing ◽  
Mutation Screening ◽  
Novel Mutations ◽  
Mutational Spectrum ◽  
Early Appearance ◽  
Southern Tunisia ◽  
Pathogenic Effect

Xeroderma Pigmentosum(XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage toXPCgene, genotyping and direct sequencing ofXPCgene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in theXPCgene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of theXPCmRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

Mutational Spectrum of the C1 Inhibitor Gene in a Cohort of Italian Patients with Hereditary Angioedema: Description of Nine Novel Mutations

2014 ◽  
Vol 78 (2) ◽  
pp. 73-82 ◽  
Author(s):  
Valeria Bafunno ◽  
Maria Bova ◽  
Stefania Loffredo ◽  
Chiara Divella ◽  
Angelica Petraroli ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
C1 Inhibitor ◽  
Novel Mutations ◽  
Mutational Spectrum ◽  
Inhibitor Gene

scholarly journals Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours

2020 ◽  
Author(s):  
Alenka Bombac ◽  
Branko Zakotnik ◽  
Marina Bucic ◽  
Vita Setrajcic Dragos ◽  
Barbara Gazic ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumours ◽  
Novel Mutations ◽  
Mutational Spectrum
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