Search Results - "Chioukh, Fatma Zohra"

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome by Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara

“…Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein…”
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Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization by Slimani, Wafa, Ben Khelifa, Hela, Dimassi, Sarra, Chioukh, Fatma-Zohra, Jelloul, Afef, Kammoun, Molka, Hannachi, Hanene, Bouslah, Sarra, Jammali, Nesrine, Sanlaville, Damien, Saad, Ali, Mougou-Zerelli, Soumaya

“…Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several…”
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Pericardial effusion with cardiac tamponade caused by a central venous catheter in a very low birth weight infant by Chioukh, Fatma-Zohra, Ameur, Karim Ben, Hmida, Hayet Ben, Monastiri, Kamel

“…With more and more extreme premature and very low-birth weight babies being resuscitated, umbilical central venous catheterisation is now being used more…”
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Spontaneous Intestinal Perforation in a Very Low Birth Weight Infant: Successful Management by Peritoneal Needle Suction by Chioukh, Fatma-Zohra, Ben Ameur, Karim, Laamiri, Rachida, Ben Hmida, Hayet, Nouri, Abellatif, Monastiri, Kamel

“…Please see fulltext…”
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Tracheal agenesis clinical presentation in a preterm infant: Prenatal MRI difficulties and autopsy findings by Saadi, Said, Ben Abdeljelil, Nouha, Ben Salem, Amina, Chioukh, Fatma Zohra, Haj Salem, Nidhal

“…We describe, the clinical presentation of a rare case of Tracheal Agenesis in a preterm infant and we highlight magnetic imaging resonance (MRI) and autopsy…”
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Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family by Sakka, Rania, Kerkeni, Emna, Chaabouni, Myriam, Chioukh, Fatma Zohra, Ben Amor, Sofiène, M'rad, Ridha, Ben Yahia, Salim, Chaabouni, Habiba, Monastiri, Kamel

“…Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities…”
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Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child by Chioukh, Fatma Zohra, Monastiri, Kamel

“…Methylmalonic acidemia or aciduria (MMA) is an inborn error of metabolism that results in the accumulation of methylmalonic acid in blood with an increased…”
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First description of the MEGDEHL syndrome in the Tunisian population via whole‐exome sequencing: Novel nonsense mutation in SERAC1 gene by Felhi, Rahma, Monastiri, Kamel, Ben Hamida, Hayet, Ammar, Marwa, Chioukh, Fatma Zohra, Tabarki, Brahim, Chouchen, Jihene, Fakhfakh, Faiza, Tlili, Abdelaziz, Mkaouar‐Rebai, Emna

“…Introduction MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3‐methylglutaconic aciduria (MEG),…”
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Inborn Errors Of Metabolism In Neonatal Period: A Challenging Management In Tunisia by Chioukh, Fatma Zohra, Chaabane, Ahlem, Khemis, Tarek, Jlassi, Awatef, Kaabachi, Naziha, Monastiri, Kamel

“…To assess clinical presentation of inborn errors of metabolism in neonatal period and to identify challenges in their management. This is a retrospective study…”
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Imaging of neck masses in the neonate by Salem, Amina Ben, Khalfalli, Abir, Jerbi, Saida, Harzallah, Wissem, Chioukh, Fatma-Zohra, Hafsa, Chiraz, Mezhoud, Ines

“…Introduction Neck masses occurring in the neonatal period and early infancy consist of vascular tumors, vascular malformations, benign and malignant soft…”
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Neonatalogist-performed echography in neonatology: a Tunisian experience by Chioukh, Fatma Zohra, Khemis, Tarek, Bahri, Jihène, Chaabane, Ahlem, Hamdi, Sonia, Maatouk, Faouzi, Néffati, Elyes, Boughzéla, Essia, Kortas, Chokri, Ben Ameur, Karim, Monastiri, Kamel

“…Echocardiography is an important tool for diagnosis of cardiac abnormalities that can impact the management and outcome of the sick newborn in the intensive…”
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Laparoscopic treatment of hydatid cyst of the liver in children. A report on 34 cases by Maazoun, Kais, Mekki, Mongi, Chioukh, Fatma Zohra, Sahnoun, Lassaad, Ksia, Amine, Jouini, Riadh, Jallouli, Mohamed, Krichene, Imed, Belghith, Mohsen, Nouri, Abdellatif

“…Abstract Purpose This study evaluated the safety and efficiency of laparoscopically treated liver cysts in children. Methods From September 2001 to July 2004,…”
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Sclérose tubéreuse de Bourneville néonatale by Salem, Amina Ben, Khalfalli, Abir, Jerbi, Saida, Harzallah, Wissem, Chioukh, Fatma-Zohra, Hafsa, Chiraz, Mezhoud, Ines

“…Introduction La sclérose tubéreuse de Bourneville (STB) est une affection génétique rare caractérisée par le développement multisystémique d’hamartomes…”
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Diagnostic anténatal des malformations corticales cérébrales by Salem, Amina Ben, Khalfalli, Abir, Jerbi, Saida, Harzallah, Wissem, Chioukh, Fatma-Zohra, Hafsa, Chiraz, Mezhoud, Ines

“…Introduction Le dépistage d’une malformation corticale et d’une anomalie de la gyration implique une bonne connaissance de la dynamique de l’évolution…”
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Diagnostic anténatal des myéloméningocèles by Salem, Amina Ben, Khalfalli, Abir, Jerbi, Saida, Harzallah, Wissem, Chioukh, Fatma-Zohra, Hafsa, Chiraz, Mezhoud, Ines

“…Introduction Les myéloméningocèles désignent un ensemble de malformations congénitales résultant d’un défaut de fermeture du tube neural lors de la 4e semaine…”
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Images liquidiennes du cerveau fœtal : quels diagnostics ? by Salem, Amina Ben, Khalfalli, Abir, Jerbi, Saida, Harzallah, Wissem, Chioukh, Fatma-Zohra, Hafsa, Chiraz, Mezhoud, Ines

“…Introduction Les lésions kystiques du cerveau fœtal sont fréquemment rencontrées en pratique courante. Leur découverte pose un problème diagnostique…”
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Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child by Chioukh, Fatma Zohra, Monastiri, Kamel

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Tracheal agenesis clinical presentation in a preterm infant: Prenatal MRI difficulties and autopsy findings by Saadi, Said, Ben Abdeljelil, Nouha, Ben Salem, Amina, Chioukh, Fatma Zohra, Haj Salem, Nidhal

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Pyelogenic cyst in children by Chioukh, Fatma Zohra, Jouini, Riadh, Ben Brahim, Mohamed, Mekki, Mongi, Belghith, Mohsen, Nouri, Abdellatif

“…Pyelogenic cyst is an intraparenchymal renal cavity lined by transitional cell epithelium which communicates with a calyx via a neck. It is a rare disease,…”
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