Suchergebnisse - "Santoni, Federico A."

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Autoren: Zouaghi, Yassine Choudhary, Anbreen Mazhar Irshad, Saba et al.

Quelle: BMC Genomics; 8/14/2024, Vol. 25 Issue 1, p1-9, 9p

Schlagwörter: SINGLE nucleotide polymorphisms, DNA copy number variations, WHOLE genome sequencing, NUCLEOTIDE sequencing, ENDOCRINE diseases

Fasting induces metabolic switches and spatial redistributions of lipid processing and neuronal interactions in tanycytes.

Autoren: Brunner, Maxime Lopez-Rodriguez, David Estrada-Meza, Judith et al.

Quelle: Nature Communications; 8/4/2024, Vol. 15 Issue 1, p1-19, 19p

Schlagwörter: TRANSCRIPTOMES, GENE expression, CLUSTER analysis (Statistics), HOMEOSTASIS, FASTING, HYPOTHALAMUS

Cover Image, Volume 40, Issue 3.

Autoren: Rehman, Atteeq U. Najafi, Maryam Kambouris, Marios et al.

Quelle: Human Mutation; Mar2019, Vol. 40 Issue 3, pi-i, 1p

GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants.

Autoren: Zhai, Jing Pitteloud, Nelly Santoni, Federico A.

Quelle: BMC Bioinformatics; 8/13/2025, Vol. 26 Issue 1, p1-11, 11p

Schlagwörter: COHORT analysis, APPLICATION software, GENETIC variation, NUCLEOTIDE sequencing, DATA security, DATA visualization

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Autoren: Ansar, Muhammad Ranza, Emmanuelle Shetty, Madhur et al.

Quelle: Human Molecular Genetics; 2/15/2020, Vol. 29 Issue 4, p618-623, 6p

PD-L1 Expression in Pituitary Neuroendocrine Tumors/Pituitary Adenomas.

Autoren: Cossu, Giulia La Rosa, Stefano Brouland, Jean Philippe et al.

Quelle: Cancers; Sep2023, Vol. 15 Issue 18, p4471, 12p

Schlagwörter: PROGRAMMED death-ligand 1, CONFIDENCE intervals, PREOPERATIVE period, IMMUNOHISTOCHEMISTRY, RETROSPECTIVE studies, CANCER relapse, CANCER patients, PITUITARY tumors, NEUROENDOCRINE tumors, RESEARCH funding, LOGISTIC regression analysis, SENSITIVITY & specificity (Statistics), ODDS ratio

Transcriptomic profiling of murine GnRH neurons reveals developmental trajectories linked to human reproduction and infertility.

Autoren: Zouaghi, Yassine Alpern, Daniel Gardeux, Vincent et al.

Quelle: Theranostics; 2025, Vol. 15 Issue 8, p3673-3692, 20p

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome.

Autoren: Porcu, Eleonora Sadler, Marie C. Lepik, Kaido et al.

Quelle: Nature Communications; 9/24/2021, Vol. 12 Issue 1, p1-9, 9p

Schlagwörter: TRANSCRIPTOMES, PHENOTYPES, GENES, STATISTICAL correlation, BIOMARKERS, GENE expression

pyTWMR: transcriptome-wide Mendelian randomization in python.

Autoren: Oreshkov, Sergey Lepik, Kaido Santoni, Federico

Quelle: Bioinformatics; Aug2024, Vol. 40 Issue 8, p1-3, 3p

Schlagwörter: GENE expression, GENETIC variation, CAUSAL inference, SINGLE nucleotide polymorphisms, SCIENTIFIC observation

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Autoren: Paracha, Sohail Aziz Nawaz, Shoaib Tahir Sarwar, Muhammad et al.

Dateibeschreibung: application/pdf

Relation: https://livrepository.liverpool.ac.uk/3187174/1/The%20genetic%20cause%20of%20neurodevelopmental%20disorders%20in%2030%20consanguineous%20families.pdf; Collapse authors list. Paracha, Sohail Aziz, Nawaz, Shoaib, Tahir Sarwar, Muhammad, Shaheen, Asmat, Zaman, Gohar, Ahmed, Jawad, Shah, Fahim, Khwaja, Sundus, Jan, Abid, Khan, Nida et al (show 14 more authors) , Kamal, Mohammad Azhar orcid:0000-0002-0180-3441 , Alam, Qamre, Abbas, Safdar, Farman, Saman, Waqas, Ahmed orcid:0000-0002-3772-194X , Alkathiri, Afnan, Hamadi, Abdullah, Santoni, Federico, Ullah, Naseeb, Khalid, Bisma, Antonarakis, Stylianos E, Fakhro, Khalid A, Umair, Muhammad and Ansar, Muhammad orcid:0000-0001-7299-3185 (2024) The genetic cause of neurodevelopmental disorders in 30 consanguineous families. Frontiers in medicine, 11. 1424753-. ISSN 2296-858X, 2296-858X

Verfügbarkeit: https://livrepository.liverpool.ac.uk/3187174/
https://doi.org/10.3389/fmed.2024.1424753
https://livrepository.liverpool.ac.uk/3187174/1/The%20genetic%20cause%20of%20neurodevelopmental%20disorders%20in%2030%20consanguineous%20families.pdf

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Autoren: Antonarakis, Stylianos E Holoubek, Aleš Rapti, Melivoia et al.

Quelle: Human Molecular Genetics; Jan2022, Vol. 31 Issue 1, p1-9, 9p

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Autoren: Rao, Ali Raza Nazir, Aamir Imtiaz, Samina et al.

Quelle: Genes; Feb2023, Vol. 14 Issue 2, p404, 13p

Schlagwörter: GENETIC variation, LAURENCE-Moon-Biedl syndrome, GENEALOGY, EXOMES, FUNCTIONAL analysis, PHENOTYPES, PROTEIN models

Geografische Kategorien: PAKISTAN

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Autoren: Rehman, Atteeq U. Najafi, Maryam Kambouris, Marios et al.

Quelle: Human Mutation; Mar2019, Vol. 40 Issue 3, p267-280, 14p

Limited evidence for blood eQTLs in human sexual dimorphism.

Autoren: Porcu, Eleonora Claringbould, Annique Weihs, Antoine et al.

Quelle: Genome Medicine; 8/11/2022, Vol. 14 Issue 1, p1-13, 13p

Schlagwörter: SEXUAL dimorphism, LOCUS (Genetics), GENOME-wide association studies, GENE expression, WAIST-hip ratio, ANIMAL offspring sex ratio

Geografische Kategorien: UNITED Kingdom

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.

Autoren: Rapti, Melivoia Zouaghi, Yassine Meylan, Jenny et al.

Quelle: Briefings in Bioinformatics; Mar2022, Vol. 23 Issue 2, p1-8, 8p

Schlagwörter: HIDDEN Markov models, COMPARATIVE genomic hybridization, WHOLE genome sequencing, MAP design, WAVELETS (Mathematics)

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Autoren: Stekelenburg, Caroline Schwitzgebel, Valerie M. Gerster, Karine et al.

Quelle: Pediatric Diabetes; May2019, Vol. 20 Issue 3, p366-369, 4p, 1 Color Photograph

Schlagwörter: GENETICS of diabetes, DEGENERATION (Pathology), DNA analysis, HUMAN abnormalities, CONGENITAL heart disease, GENOMES, GENETIC mutation, TRANSCRIPTION factors, DNA-binding proteins, GENETIC carriers, HYPOPITUITARISM, IMPERFORATE anus, SEQUENCE analysis, CHILDREN, DIAGNOSIS

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Autoren: Ansar, Muhammad Paracha, Sohail Aziz Serretti, Alessandro et al.

Quelle: Human Molecular Genetics; 3/15/2019, Vol. 28 Issue 6, p972-979, 8p

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.

Autoren: Stekelenburg, Caroline Blouin, Jean-Louis Santoni, Federico et al.

Quelle: Scientific Reports; 8/15/2022, Vol. 12 Issue 1, p1-15, 15p

Schlagwörter: PANCREATIC beta cells, PHENOTYPIC plasticity, ISLANDS of Langerhans, GENETIC variation, KNOCKOUT mice, BETA functions, RNA sequencing

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.

Autoren: Stamoulis, Georgios Garieri, Marco Makrythanasis, Periklis et al.

Quelle: Nature Communications; 10/3/2019, Vol. 10 Issue 1, pN.PAG-N.PAG, 1p

Schlagwörter: GENETIC regulation, GENETIC overexpression, GENE expression, CELL analysis, GENES

Systematic Genetic Study of Youth With Diabetes in a Single Country Reveals the Prevalence of Diabetes Subtypes, Novel Candidate Genes, and Response to Precision Therapy.

Autoren: Stankute, Ingrida Verkauskiene, Rasa Blouin, Jean-Louis et al.

Quelle: Diabetes; May2020, Vol. 69 Issue 5, p1065-1071, 7p