Zobrazeno 1 - 10
of 1 344
pro vyhledávání: '"phenotype-genotype"'
Publikováno v:
The Application of Clinical Genetics, Vol Volume 17, Pp 171-186 (2024)
Zhoushu Zheng,1 Lulu Yan,2,3 Lu Ding,1 Yinghui Zhang,1 Meihong Wang,1 Yihui Yang,1 Junhua Wu,3 Changshui Chen,3 Ming Tang,1 Haibo Li2,3 1Department of Otolaryngology Head and Neck Surgery, The Affiliated Women and Children’s Hospital of Ningbo Univ
Externí odkaz:
https://doaj.org/article/c248d704bffa46859b60a6163c6be562
Autor:
Yar Muhammad Waryah, Feriha Fatima Khidri, Amir Ansari, Samia Mehmood, Sumera Abbasi, Shabahat Memon
Publikováno v:
JLUMHS, Vol 23, Iss 3, Pp 249-253 (2024)
OBJECTIVE: To identify the disease-causing allele of retinitis pigmentosa, a heterogeneous genetic disorder in a single affected family. METHODOLOGY: A cross-sectional descriptive study was conducted at the Sindh Institute of Ophthalmology & Visual
Externí odkaz:
https://doaj.org/article/32d7c8ba52a449b9aa6230cb677e4396
Autor:
Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neon
Externí odkaz:
https://doaj.org/article/4674a37b1dbd413094568f5841ec4ec4
Autor:
Hugo Denis, Oliver Selmoni, Hugues Gossuin, Thierry Jauffrais, Caleb C. Butler, Gaël Lecellier, Véronique Berteaux-Lecellier
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract One of the main challenges in coral reef conservation and restoration is the identification of coral populations resilient under global warming. Seascape genomics is a powerful tool to uncover genetic markers potentially involved in heat tol
Externí odkaz:
https://doaj.org/article/aec36e1caae04cd7af831ecd850d3409
Autor:
Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De laTorre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz delCarmen Marquez‐Quiróz, Benjamín Torres‐Octavo, Rubicel Diaz‐Martinez
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.
Externí odkaz:
https://doaj.org/article/10c85aa27eff45718f043839c276dd00
Autor:
Nalumon Thadtapong, Soraya Chaturongakul, Sithichoke Tangphatsornruang, Chutima Sonthirod, Natharin Ngamwongsatit, Ratchaneewan Aunpad
Publikováno v:
Antibiotics, Vol 13, Iss 10, p 935 (2024)
The presence of antibiotic-resistant Escherichia coli in food is a serious and persistent problem worldwide. In this study, 68 E. coli strains isolated from Thai food samples were characterized. Based on antibiotic susceptibility assays, 31 of these
Externí odkaz:
https://doaj.org/article/f256a813fb55448a8a784618e24e71e6
Autor:
Mario Rodríguez-Martín, Juan Báez-Flores, Vanessa Ribes, María Isidoro-García, Jesus Lacal, Pablo Prieto-Matos
Publikováno v:
Biomedicines, Vol 12, Iss 4, p 841 (2024)
RASopathies, a group of neurodevelopmental congenital disorders stemming from mutations in the RAS/MAPK pathway, present a unique opportunity to delve into the intricacies of complex neurological disorders. Afflicting approximately one in a thousand
Externí odkaz:
https://doaj.org/article/4c8aa995b5554e85b9935a3d60f683db
Autor:
Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina
Publikováno v:
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Key Clinical Message We report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of chi
Externí odkaz:
https://doaj.org/article/05e06569fdec4dc7b581d9e063ad1424
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