Manel Guirat

Rapidly progressive cirrhosis and portal hypertension in a Tunisian child with PFIC5 due to a novel homozygous NR1H4 frameshift mutation

Manel Hsairi, Manel Feki, Manel Guirat, Mouna Loukil et autres

Tunisie (code pays fourni par la source)

Genetic investigation of a Tunisian family with Lynch syndrome: a case report

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Souhir Guidara, Slim Charfi et autres

Purpose: This study aimed to characterize the clinical and molecular features of a Tunisian family suspected of Lynch syndrome (LS) and identify the segregating pathogenic variant(s). Methods: A three-generation consanguineous family from the south of Tunisia with six members was recruited. Clinical …

Tunisie (code pays fourni par la source)

Enriching African genome representation through the AGenDA project

Michèle Ramsay, Harriet Rosanne Etheredge, Furahini Tluway, M. E. D’Amato et autres

Afrique du Sud, Zimbabwe, Tunisie, Libye, Maurice, gb, Angola, pt, Rwanda, br, Kenya, République démocratique du Congo, us, be (code pays fourni par la source)

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort

Rania Khalfallah, Fakhri Kallabi, Delphine Mallet, Manel Guirat et autres

Tunisie, fr, us (code pays fourni par la source)

Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis

Boudour Khabou, Manel Guirat, Manel Hsairi, Lamia Gargouri et autres

Tunisie, pl, ae (code pays fourni par la source)

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level

Boudour Khabou, Houcemeddine Othman, Manel Guirat, Imen Chabchoub et autres

Tunisie, Afrique du Sud, qa, ae (code pays fourni par la source)

Le syndrome 3M : une cause rare de retard de croissance sévère

F. Majdoub, Manel Guirat, Imene Boujelbene, A. Ziadi et autres

Le syndrome 3M est un trouble autosomique récessif rare caractérisé par un retard de croissance sévère, une dysmorphie faciale et des anomalies squelettiques sans retentissement cognitif. Il peut être secondaire à des variants bi-alléliques au niveau des gènes CUL7 , OBSL1 , …

Tunisie, ae (code pays fourni par la source)

Genome Tunisia Project: paving the way for precision medicine in North Africa

Yosr Hamdi, Médiha Trabelsi, Kaïs Ghedira, Maroua Boujemaa et autres

BACKGROUND: Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022-2035) which aims to deliver the reference sequence of the Tunisian …

Tunisie (code pays fourni par la source)

Caractéristiques cliniques et génétiques du lepréchaunisme : à propos de 13 patients tunisiens

S. Benkhalifa, Manel Guirat, L. Affes, Imene Boujelbene et autres

Tunisie (code pays fourni par la source)

Adrénoleucodystrophie liée à l’X : étude clinique et génétique d’une série de patients tunisiens

F. Kallabi, W. Essalah, Manel Guirat, L. Affes et autres

Tunisie (code pays fourni par la source)

Psychological impact of motor impairment in tow forms of congenital muscular dystrophy

Imene Boujelbene, Mariem Chaâbane, Manel Guirat, D. Ben Touhèmi et autres

Introduction Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development. Several genes are known to be responsible for CMDs, including the LAMA2 gene, involved in merosin-deficient type 1A (MDC1A), and the …

Tunisie (code pays fourni par la source)

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

Stéphanie Gobin‐Limballe, Chris Ottolenghi, Fabien Reyal, Jean‐Baptiste Arnoux et autres

OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking advantage of a cohort of 130 families (289 females), we assessed the …

fr (code pays fourni par la source)