Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
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Journal Article
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
Jaouadi, Hager, Kraoua, Lilia, Chaker, Lilia, Atkinson, Alexandre, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mrad, Ridha, Abdelhak, Sonia, Zaffran, Stéphane
Published in Journal of human genetics (01.10.2018)
Published in Journal of human genetics (01.10.2018)
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Journal Article
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
Gouiza, Ismail, Hechmi, Meriem, Zioudi, Abir, Dallali, Hamza, Kheriji, Nadia, Charif, Majida, Le Mao, Morgane, Galai, Said, Kraoua, Lilia, Ben Youssef-Turki, Ilhem, Kraoua, Ichraf, Lenaers, Guy, Kefi, Rym
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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Journal Article
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
Jaouadi, Hager, Bouyacoub, Yosra, Chabrak, Sonia, Kraoua, Lilia, Zaroui, Amira, Elouej, Sahar, Nagara, Majdi, Dallali, Hamza, Delague, Valérie, Levy, Nicolas, Benkhalifa, Rym, Mechmeche, Rachid, Zaffran, Stéphane, Abdelhak, Sonia
Published in Herz (01.04.2021)
Published in Herz (01.04.2021)
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Journal Article
Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy
Kraoua, Lilia, Louati, Assaad, Ahmed, Sarra Ben, Abida, Nesrine, Khemiri, Monia, Menif, Khaled, Mrad, Ridha, Zaffran, Stéphane, Jaouadi, Hager
Published in Molecular genetics & genomic medicine (01.06.2024)
Published in Molecular genetics & genomic medicine (01.06.2024)
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Journal Article
Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome
Kraoua, Lilia, Jaouadi, Hager, Allouche, Mohamed, Achour, Ahlem, Kaouther, Hakim, Ahmed, Habib Ben, Chaker, Lilia, Maazoul, Faouzi, Ouarda, Fatma, Zaffran, Stéphane, M'rad, Ridha
Published in Molecular genetics & genomic medicine (01.07.2022)
Published in Molecular genetics & genomic medicine (01.07.2022)
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Journal Article
Genetic study of Alport syndrome in Tunisia
Younsi, Mariem El, Achour, Ahlem, Kraoua, Lilia, Nesrine, Mezzi, Sayari, Taha, Abderrahim, Ezzeddine, Laabidi, Janet, Zouaghi, Mohamed Karim, Kharrat, Maher, Gargah, Tahar, Trabelsi, Mediha, M’rad, Ridha
Published in Pediatric nephrology (Berlin, West) (14.08.2024)
Published in Pediatric nephrology (Berlin, West) (14.08.2024)
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Journal Article
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Al-Sagheir, Afaf I., Mansour, Ahmad M., Alawaji, Ali, Aldhilan, Amal, Alhashem, Amal, Alhemidan, Amal, Nabil, Amira, Khan, Arif O., Aljohar, Aziza, Alsaleem, Badr, Tabarki, Brahim, Lourenco, Charles Marques, Faqeih, Eissa, AlShail, Essam, Almesaifri, Fatima, Mutairi, Fuad Al, Alzaidan, Hamad, Morsy, Heba, Alshihry, Hind, Alkuraya, Hisham, Girisha, Katta Mohan, Al-Fayez, Khawla, Al-Rubeaan, Khalid, kraoua, Lilia, Alnemer, Maha, Tulbah, Maha, Zaki, Maha S., Alfadhel, Majid, Abouelhoda, Mohammed, Nezarati, Marjan M., Al-Qattan, Mohammad, Shboul, Mohammad, Abanemai, Mohammed, Al-Muhaizea, Mohammad A., Al-owain, Mohammed, Bafaqeeh, Mohammed Sameer, Alshammari, Muneera, Abukhalid, Musaad, Alsahan, Nada, Derar, Nada, Meriki, Neama, Bohlega, Saeed A., Tala, Saeed Al, Alhassan, Saad, Wali, Sami, Mohamed, Sarar, Coskun, Serdar, Saadeh, Sermin, Tkemaladze, Tinatin, Kurdi, Wesam, Alhumaidi, Zainab Ahmed, Rahbeeni, Zuhair, Alkuraya, Fowzan S.
Published in Nature communications (29.08.2023)
Published in Nature communications (29.08.2023)
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Journal Article
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
Daghsni, Marwa, Lahbib, Saida, Fradj, Mohamed, Sayeb, Marwa, Kelmemi, Wided, Kraoua, Lilia, Kchaou, Mariem, Maazoul, Faouzi, Echebbi, Slim, Ben Ali, Nadia, Abdelhak, Sonia, M'rad, Ridha
Published in Cytogenetic and genome research (01.01.2018)
Published in Cytogenetic and genome research (01.01.2018)
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Journal Article
WDR73-related galloway mowat syndrome with collapsing glomerulopathy
El Younsi, Mariem, Kraoua, Lilia, Meddeb, Rym, Ferjani, Maryem, Trabelsi, Médiha, Ouertani, Ines, Maazoul, Faouzi, Abid, Nabil, Gargah, Tahar, M'rad, Ridha
Published in European journal of medical genetics (01.09.2019)
Published in European journal of medical genetics (01.09.2019)
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Journal Article
Genome Tunisia Project: paving the way for precision medicine in North Africa
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, Achour, Ahlem, Ouertani, Ines, Kraoua, Lilia, Meddeb, Rym, Skouri, Sana, Gabtni, Sana, Bellil, Hela, Elaribi, Yasmina, Hizem, Syrine, Jilani, Houweyda, Kchaou, Sonia, Trigui, Malek, Rjiba, Khouloud, Chouk, Hamza, Mahdouani, Marwa, Dimassi, Sarra, Mougou, Soumaya, Trabelsi, Narjess, El Abed, Yasmine, Boubaker, Safa, Braham, Rihen, Najjar, Salma, Msakni, Ahlem, Chtioui, Fatma, Hammami, Lamia, Gargouri, Hela, Jbeli, Fidaa, Ben Marzough, Riadh, Choura, Mouna, Ben Said, Meriem, Lajmi, Yosra, Guidara, Souhir, Guirat, Manel, Kerkeni, Nesrine, Younsi, Maryam, Karoui, Sana, Souiai, Oussema, Hannachi, Mariem, Othman, Houcemeddine, El Mabrouk, Haifa, Bouzid, Feriel, Abid, Cyrine, Ammouss, Nihel, Boujelbene, Imene, Khamessi, Oussema, Ghram, Abdeljelal, M'charek, Amade, Mbarek, Hamdi, Mellah, Thouraya, ElKadri, Noomen, Khoujet El Khil, Houssein, Chaabane, Hassan, Kharrat, Maher, Gargouri, Raja, Cherni, Lotfi, Fakhfakh, Faiza, Charfi Triki, Chahnaz
Published in Genome medicine (27.08.2024)
Published in Genome medicine (27.08.2024)
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Journal Article
Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT)
Essaddam, Leila, Zitouni, Ons, Kraoua, Lilia, Trabelsi, Madiha, Sassi, Hella, Kmiha, Sana, Charfi, Fatma, El Guiche, Dorra, Kebaïli, Raoudha, Jaballah, Nesrine, Rjeb, Maroua, Zouari, Noura, El Aribi, Yasmina, Hizem, Syrine, Wannes, Salmen, Fkih Romdhane, Ibtihel, Sfar, Mohamed Tahar, Ben Hamouda, Hechmi, Hadj Salem, Radhia, Khlayfia, Zied, Khmiss, Tarek, Monastiri, Kamel, Siala, Nadia, Chouchane, Slaheddine, Souaa, Habib, Khochtali, Inès, Mahjoub, Bahri, Sfar, Habib, Ben Jemâa, Lamia, Abroug, Saoussen, Boughamoura, Lamia, Kamoun, Inès, Kamoun, Thouraya, Mrad, Ridha, Ben Becher, Saayda
Published in Journal of Pediatric Endocrinology & Metabolism (27.06.2023)
Published in Journal of Pediatric Endocrinology & Metabolism (27.06.2023)
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Journal Article
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients
Trabelsi, Mediha, Nouira, Malek, Maazoul, Faouzi, Kraoua, Lilia, Meddeb, Rim, Ouertani, Ines, Chelly, Imen, Benoit, Valérie, Besbes, Ghazi, Mrad, Ridha
Published in International journal of pediatric otorhinolaryngology (01.12.2017)
Published in International journal of pediatric otorhinolaryngology (01.12.2017)
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Journal Article
Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism
Oueslati, Ibtissem, Kraoua, Lilia, Khiari, Karima, Mrad, Ridha, Ben Abdallah, Néjib
Published in Annales d'endocrinologie (01.02.2017)
Published in Annales d'endocrinologie (01.02.2017)
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Journal Article
Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia
Kraoua, Lilia, Journel, Hubert, Bonnet, Philippe, Amiel, Jeanne, Pouvreau, Nathalie, Baumann, Clarisse, Verloes, Alain, Cavé, Hélène
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article
Pseudoaminopterin syndrome
Kraoua, Lilia, Capri, Yline, Perrin, Laurence, Benmansour, Abdelmajjid, Verloes, Alain
Published in American journal of medical genetics. Part A (01.09.2012)
Published in American journal of medical genetics. Part A (01.09.2012)
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Journal Article
Le syndrome de Kabuki : étude clinique d’une série de 23 patients tunisiens
Fredj, Hana, Ouertani, Ines, Trabelsi, Mediha, Kraoua, Lilia, Maazoul, Faouzi, Mrad, Ridha
Published in Morphologie (01.09.2021)
Published in Morphologie (01.09.2021)
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Journal Article
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
Rejeb, Imen, Ben Jemaa, Lamia, Abaied, Leila, Kraoua, Lilia, Saillour, Yoann, Maazoul, Faouzi, Chelly, Jamel, Chaabouni, Habiba
Published in European journal of medical genetics (01.05.2011)
Published in European journal of medical genetics (01.05.2011)
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Journal Article
Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome
Ghedira, Nehla, Kraoua, Lilia, Lagarde, Arnaud, Abdelaziz, Rim Ben, Olschwang, Sylviane, Desvignes, Jean Pierre, Abdelhak, Sonia, Monastiri, Kamel, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Mrad, Ridha
Published in Biology and medicine (01.11.2017)
Published in Biology and medicine (01.11.2017)
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Journal Article