Search Results - "Jilani, Houweyda"

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations by Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia

“…Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary…”
Get full text

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene by Rejeb, Imen, Jerbi, Mouna, Jilani, Houweyda, Gaied, Hanène, Elaribi, Yasmina, Hizem, Syrine, Aoudia, Raja, Hedri, Hafedh, Zaied, Chiraz, Abid, Salwa, Bacha, Hassen, BenAbdallah, Taieb, BenJemaa, Lamia, Goucha, Rim

“…Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979…”
Get full text

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report by Jilani, Houweyda, Hsoumi, Faten, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Sebai, Molka, Rolfs, Arndt, Benjemaa, Lamia

“…Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic…”
Get full text

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature by Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia

“…Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors…”
Get full text

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study by Shboul, Mohammad, Sassi, Hela, Jilani, Houweyda, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Jemaa, Lamia Ben, Hilmi, Marwa, Kircher, Susanna Gerit, Al Kaissi, Ali

“…Objective: Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare…”
Get full text

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects by Roucher-Boulez, Florence, Mallet-Motak, Delphine, Samara-Boustani, Dinane, Jilani, Houweyda, Ladjouze, Asmahane, Souchon, Pierre-François, Simon, Dominique, Nivot, Sylvie, Heinrichs, Claudine, Ronze, Maryline, Bertagna, Xavier, Groisne, Laure, Leheup, Bruno, Naud-Saudreau, Catherine, Blondin, Gilles, Lefevre, Christine, Lemarchand, Laetitia, Morel, Yves

“…Objective Nicotinamide nucleotide transhydrogenase (NNT), one of the several genes recently discovered in familial glucocorticoid deficiencies (FGD), is…”
Get full text

Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants by Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B, Benz, Marcus R, Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Bärbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw, Szczepanska, Maria, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wühl, Elke, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph

“…Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the…”
Get more information

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing by Hizem, Syrine, Elaribi, Yasmina, Ben Slama, Sana, Dimassi, Kawther, Jilani, Houweyda, Rejeb, Imen, Sebaï, Molka, Bekri, Soumeya, Ben Jemaa, Lamia

“…Non-Immune Hydrops Fetalis (NIHF) is an intrauterine condition characterized by excessive fluid accumulation in at least two fetal compartments in the absence…”
Get full text

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3 by Hizem, Syrine, Maamouri, Rym, Zaouak, Anissa, Rejeb, Imen, Karoui, Sana, Sebai, Molka, Jilani, Houweyda, Elaribi, Yasmina, Fenniche, Sami, Cheour, Monia, Bilan, Frédéric, Ben Jemaa, Lamia

“…Ectrodactyly is a rare congenital limb malformation characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. It could…”
Get full text

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita by Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino

“…Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad…”
Get full text

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1 by Maamouri, Rym, Hizem, Syrine, Kammoun, Ines, Elaribi, Yasmina, Rejeb, Imen, Sebai, Molka, Jilani, Houweyda, Rouzier, Cécile, Cheour, Monia, Paquis-Flucklinger, Véronique, Ben Jemaa, Lamia

“…Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable…”
Get full text

Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) by Burgmaier, Kathrin, Ariceta, Gema, Bald, Martin, Buescher, Anja Katrin, Burgmaier, Mathias, Erger, Florian, Gessner, Michaela, Gokce, Ibrahim, König, Jens, Kowalewska, Claudia, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Pape, Lars, Patzer, Ludwig, Potemkina, Alexandra, Schalk, Gesa, Schild, Raphael, Shroff, Rukshana, Szczepanska, Maria, Taranta-Janusz, Katarzyna, Tkaczyk, Marcin, Weber, Lutz Thorsten, Wühl, Elke, Wurm, Donald, Wygoda, Simone, Zagozdzon, Ilona, Dötsch, Jörg, Oh, Jun, Schaefer, Franz, Liebau, Max Christoph

“…To test the association between bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) and long-term clinical outcome…”
Get full text

Genome Tunisia Project: paving the way for precision medicine in North Africa by Hamdi, Yosr, Trabelsi, Mediha, Ghedira, Kais, Boujemaa, Maroua, Ben Ayed, Ikhlas, Charfeddine, Cherine, Souissi, Amal, Rejeb, Imen, Kammoun Rebai, Wafa, Hkimi, Chaima, Neifar, Fadoua, Jandoubi, Nouha, Mkaouar, Rahma, Chaouch, Melek, Bennour, Ayda, Kamoun, Selim, Chaker Masmoudi, Hend, Abid, Nabil, Mezghani Khemakhem, Maha, Masmoudi, Saber, Saad, Ali, BenJemaa, Lamia, BenKahla, Alia, Boubaker, Samir, Mrad, Ridha, Kamoun, Hassen, Abdelhak, Sonia, Gribaa, Moez, Belguith, Neila, Kharrat, Najla, Hmida, Dorra, Rebai, Ahmed

“…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…”
Get full text

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases by Callea, Michele, Bellacchio, Emanuele, Cammarata Scalisi, Francisco, El Feghaly, Jinia, El-Ghandour, Rabab K, Avendaño, Andrea, Yavuz, Yasemine, Diociaiuti, Andrea, Digilio, Maria C, DI Stazio, Mariateresa, Novelli, Antonio, Oranges, Teresa, Filippeschi, Cesare, Pisaneschi, Elisa, Jilani, Houweyda, Gigola, Francesca, Willoughby, Colin E, Morabito, Antonino

“…Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these…”
Get more information

Cover by Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia

“…The cover image is based on the Original Article Beckwith‐Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and…”
Get full text

Cover by Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Habib Bouthour, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, Dorra H’mida Ben‐Brahim, BenJemaa, Lamia

Get full text

Cover by Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia

“…The cover image is based on the Original Article Beckwith‐Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and…”
Get full text

Cover by Sassi, Hela, Elaribi, Yasmina, Jilani, Houweyda, Rejeb, Imen, Hizem, Syrine, Sebai, Molka, Kasdallah, Nadia, Bouthour, Habib, Hannachi, Samia, Beygo, Jasmin, Saad, Ali, Buiting, Karin, H’mida Ben‐Brahim, Dorra, BenJemaa, Lamia

Get full text

Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome by Azzabi, Ons, Jilani, Houweyda, Rejeb, Imen, Siala, Nadia, Elaribi, Yasmina, Hizem, Syrine, Selmi, Ines, Halioui, Sonia, Lascols, Olivier, Jemaa, Lamia Ben, Maherzi, Ahmed

“…Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin…”
Get more information

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report by Jilani, Houweyda, Hsoumi, Faten, Rejeb, Imen, Elaribi, Yasmina, Hizem, Syrine, Sebai, Molka, Rolfs, Arndt, Benjemaa, Lamia

Get full text