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2. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., and Bezzina, Connie R.

Published
2021
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8. Noonan syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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9. Cover Image, Volume 173A, Number 9, September 2017

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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10. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, el Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Lodder, Elisabeth M., Clur, Sally-Ann B., Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R., Cardiology, ACS - Heart failure & arrhythmias, Medical Biology, Amsterdam Cardiovascular Sciences, Paediatric Cardiology, APH - Methodology, APH - Quality of Care, APH - Aging & Later Life, APH - Personalized Medicine, Human Genetics, Amsterdam Reproduction & Development (AR&D), and ACS - Pulmonary hypertension & thrombosis

Abstract

Due to a processing error the author’s Doris Škorić-Milosavljević, Najim Lahrouchi, Alex V. Postma, Connie R. Bezzina were assigned to affiliation 38. However, affiliation 38 does not exist. In addition, the affiliations of Najim Lahrouchi, Elisabeth M. Lodder, and Connie R. Bezzina should be number 1 instead of number 2. The correct affiliation is Department of Clinical and Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands. The original article has been corrected.

Published
2021

11. Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families

Author

Trhanint, Said, primary, Bouguenouch, Laila, additional, Abourazzak, Sana, additional, El Ouahabi, Hanan, additional, Latrech, Hanane, additional, Benyakhlef, Salma, additional, Bennani, Bahia, additional, El Bouchikhi, Ihssane, additional, Moufid, Fatima Zahra, additional, Ouldim, Karim, additional, El Ghadraoui, Lahsen, additional, and Maazouzi, Nadia, additional

Published
2021
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12. Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.

Author

El Bouchikhi, Ihssane, Bouguenouch, Laila, Moufid, Fatima Zohra, Belhassan, Khadija, Samri, Imane, Chaouti, Amal, Houssaïni, Mohammed Iraqui, Atmani, Samir, and Ouldim, Karim

Subjects
*DNA analysis, *ALGORITHMS, *ATRIAL septal defects, *CONGENITAL heart disease, *LONGITUDINAL method, *GENETIC mutation, *POLYMERASE chain reaction, *TETRALOGY of Fallot, *TRANSCRIPTION factors, *GENETIC testing, *DATA analysis software, *DESCRIPTIVE statistics, *SEQUENCE analysis
Abstract

Objective: Atrial septal defect (ASD) is one of the most common types of congenital heart disease (CHD). It is mainly caused by mutations of NK2 homeobox 5, GATA binding protein 4 (GATA4), and myosin heavy chain 6 in non-syndromic cases. This study aims to carry out, for the first time, the GATA4 mutation screening in a Moroccan population affected by ASD and compare the obtained mutation rate across populations. Materials and Methods: A total of 33 patients were enrolled in this study. DNAs were extracted from peripheral blood samples, and we performed PCR-sequencing for GATA4 coding regions. Sequences were analyzed by sequence alignment and functional impact prediction tools. Mutation rate comparisons were performed by R software using the appropriate statistical tests. Results: We detected 7 variants, but no pathogenic mutation was revealed, except for Asn352= that was assessed by human splicing finder algorithms to have a potential impairing effect on the splicing mechanism. Until proven by in vitro functional studies, the current pathogenic mutation rate in our cohort seems to be 0%. Statistical comparison with previous studies from all over the world shows no significant difference. Seemingly, comparison of previous GATA4 mutation rates among tetralogy of Fallot (TOF) populations shows no significant difference. Conclusion: The low rates of GATA4 mutations observed throughout ASD and TOF international populations may suggest a limited causality of GATA4 mutations in the main CHDs, which further confirms the co-involvement of additional genetic and/or environmental factors in the manifestation of these phenotypes. [ABSTRACT FROM AUTHOR]

Published
2020
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15. Cover Image, Volume 176A, Number 5, May 2018

Author

Kruszka, Paul, primary, Porras, Antonio R., additional, de Souza, Deise Helena, additional, Moresco, Angélica, additional, Huckstadt, Victoria, additional, Gill, Ashleigh D., additional, Boyle, Alec P., additional, Hu, Tommy, additional, Addissie, Yonit A., additional, Mok, Gary T. K., additional, Tekendo‐Ngongang, Cedrik, additional, Fieggen, Karen, additional, Prijoles, Eloise J., additional, Tanpaiboon, Pranoot, additional, Honey, Engela, additional, Luk, Ho‐Ming, additional, Lo, Ivan F. M., additional, Thong, Meow‐Keong, additional, Muthukumarasamy, Premala, additional, Jones, Kelly L., additional, Belhassan, Khadija, additional, Ouldim, Karim, additional, El Bouchikhi, Ihssane, additional, Bouguenouch, Laila, additional, Shukla, Anju, additional, Girisha, Katta M., additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Mishra, Rupesh, additional, Kisling, Monisha S., additional, Ferreira, Carlos R., additional, de Herreros, María Beatriz, additional, Lee, Ni‐Chung, additional, Jamuar, Saumya S., additional, Lai, Angeline, additional, Tan, Ee Shien, additional, Ying Lim, Jiin, additional, Wen‐Min, Cham Breana, additional, Gupta, Neerja, additional, Lotz‐Esquivel, Stephanie, additional, Badilla‐Porras, Ramsés, additional, Hussen, Dalia Farouk, additional, El Ruby, Mona O., additional, Ashaat, Engy A., additional, Patil, Siddaramappa J., additional, Dowsett, Leah, additional, Eaton, Alison, additional, Innes, A. Micheil, additional, Shotelersuk, Vorasuk, additional, Badoe, Ëben, additional, Wonkam, Ambroise, additional, Obregon, María Gabriela, additional, Chung, Brian H. Y., additional, Trubnykova, Milana, additional, La Serna, Jorge, additional, Gallardo Jugo, Bertha Elena, additional, Chávez Pastor, Miguel, additional, Abarca Barriga, Hugo Hernán, additional, Megarbane, Andre, additional, Kozel, Beth A., additional, van Haelst, Mieke M., additional, Stevenson, Roger E., additional, Summar, Marshall, additional, Adeyemo, A. Adebowale, additional, Morris, Colleen A., additional, Moretti‐Ferreira, Danilo, additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2018
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16. Williams–Beuren syndrome in diverse populations

Author

Kruszka, Paul, primary, Porras, Antonio R., additional, de Souza, Deise Helena, additional, Moresco, Angélica, additional, Huckstadt, Victoria, additional, Gill, Ashleigh D., additional, Boyle, Alec P., additional, Hu, Tommy, additional, Addissie, Yonit A., additional, Mok, Gary T. K., additional, Tekendo‐Ngongang, Cedrik, additional, Fieggen, Karen, additional, Prijoles, Eloise J., additional, Tanpaiboon, Pranoot, additional, Honey, Engela, additional, Luk, Ho‐Ming, additional, Lo, Ivan F. M., additional, Thong, Meow‐Keong, additional, Muthukumarasamy, Premala, additional, Jones, Kelly L., additional, Belhassan, Khadija, additional, Ouldim, Karim, additional, El Bouchikhi, Ihssane, additional, Bouguenouch, Laila, additional, Shukla, Anju, additional, Girisha, Katta M., additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Mishra, Rupesh, additional, Kisling, Monisha S., additional, Ferreira, Carlos R., additional, de Herreros, María Beatriz, additional, Lee, Ni‐Chung, additional, Jamuar, Saumya S., additional, Lai, Angeline, additional, Tan, Ee Shien, additional, Ying Lim, Jiin, additional, Wen‐Min, Cham Breana, additional, Gupta, Neerja, additional, Lotz‐Esquivel, Stephanie, additional, Badilla‐Porras, Ramsés, additional, Hussen, Dalia Farouk, additional, El Ruby, Mona O., additional, Ashaat, Engy A., additional, Patil, Siddaramappa J., additional, Dowsett, Leah, additional, Eaton, Alison, additional, Innes, A. Micheil, additional, Shotelersuk, Vorasuk, additional, Badoe, Ëben, additional, Wonkam, Ambroise, additional, Obregon, María Gabriela, additional, Chung, Brian H. Y., additional, Trubnykova, Milana, additional, La Serna, Jorge, additional, Gallardo Jugo, Bertha Elena, additional, Chávez Pastor, Miguel, additional, Abarca Barriga, Hugo Hernán, additional, Megarbane, Andre, additional, Kozel, Beth A., additional, van Haelst, Mieke M., additional, Stevenson, Roger E., additional, Summar, Marshall, additional, Adeyemo, A. Adebowale, additional, Morris, Colleen A., additional, Moretti‐Ferreira, Danilo, additional, Linguraru, Marius George, additional, and Muenke, Maximilian, additional

Published
2018
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22. NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.

Author

El Bouchikhi, Ihssane, Bouguenouch, Laila, Moufid, Fatima Zohra, Houssaini, Mohammed Iraqui, Belhassan, Khadija, Samri, Imane, Joutei, Ayoub Tahri, Ouldim, Karim, and Atmani, Samir

Subjects
*ATRIAL septal defects, *HEART septum abnormalities, *GENETIC testing, *MOROCCANS, *PUBLIC health, *CONSANGUINITY, *DIAGNOSIS, *DISEASES, *DISEASE risk factors
Abstract

Objective: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. Methods: Thirty-two non-syndromic ASDII patients were screened for NKX2-5 variants using direct sequencing of polymerase chain reactionamplified coding regions. Risk factor rates were compared to general population and assessed using Fisher's exact and chi-square tests. In this retrospective study, criteria of exclusion were suggestive or confirmed syndrome association. Results: Three heterozygous variants were detected in 4 patients. NKX2-5 variant rate in present cohort is estimated to be about 9.4%. Two prominent risk factors in the Moroccan population were highlighted: consanguinity, rate of which was significantly high at 30.8%, and previous maternal miscarriage or sibling sudden death, observed in 34.6% of cohort. Conclusion: Impact of identified variants was discussed and possible disease-predisposing effect is suggested. Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity. High level of maternal miscarriage and sibling sudden death suggests potential non-sporadic nature as result of putative genetic defect. [ABSTRACT FROM AUTHOR]

Published
2017
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23. The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.

Author

EL BOUCHIKHI, Ihssane, SAMRI, Imane, IRAQUI HOUSSAINI, Mohammed, TRHANINT, Saaid, BOUGUENOUCH, Laila, SAYEL, Hanane, HIDA, Moustapha, ATMANI, Samir, and OULDIM, Karim

Subjects
*GENETIC mutation, *EXONS (Genetics), *NOONAN syndrome, *PHOSPHATASES, *COHORT analysis
Abstract

Background/aim: Noonan syndrome is an autosomal dominant disorder with an incidence of 1/1000-2500. It results from proteintyrosine phosphatase, nonreceptor type 11 (PTPN11) mutations in roughly 50% of cases. Mutational screening of PTPN11 has been carried out in different populations. Thus, the aim of this study was to screen, for the first time, PTPN11 mutations in a series of Moroccan Noonan syndrome patients. Materials and methods: We used bidirectional sequencing of exons 3 and 8, considered as PTPN11 mutation hot spots, and then compared the rate of mutational events of these exons between different populations using chi-square and Fisher's exact tests. Results: We detected 3 heterozygous mutations (Asp61Gly, Tyr63Cys, and Asn308Ser) in 4 individuals of 16 sporadic patients (25%). The rate of mutation in our cohort did not differ from that of other populations. However, we found significant differences in the mutation rate of exon 8 between one Japanese cohort and some populations, which requires more investigations to be explained. Conclusion: The present study allowed identification of mutations clustered in exons 3 and 8 of the PTPN11 gene in a Moroccan Noonan syndrome cohort and enabled us to give appropriate genetic counseling to the mutation-positive patients. [ABSTRACT FROM AUTHOR]

Published
2015
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24. Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

Author

Trhanint S, Bouguenouch L, Abourazzak S, El Ouahabi H, Latrech H, Benyakhlef S, Bennani B, El Bouchikhi I, Moufid FZ, Ouldim K, El Ghadraoui L, and Maazouzi N

Abstract

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients., Methods: Twenty suspected MODY patients were screened for HNF1A and GCK mutations using Sanger sequencing and MLPA methods. Segregation analysis of identified mutations was performed among family members. The pathogenic nature of missense variants was predicted using bioinformatic tools., Results: A total of two mutations were revealed among all patients raising the diagnostic rate to 10%. We identified a large novel GCK deletion (c.209-?_1398+?del) by MLPA in one patient and a previously reported missense substitution (c.92G > A) in HNF1A gene., Conclusion: This is the first investigation to perform the molecular diagnosis of MODY suspected patients. Our findings constitute a primary contribution towards unraveling the genetic landscape involved in the pathogenesis of MODY disease in Morocco., Competing Interests: The authors declare no conflict of interest., (© 2021 Publishing services provided by Elsevier B.V. on behalf of King Faisal Specialist Hospital & Research Centre (General Organization), Saudi Arabia.)

Published
2022
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25. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Author

Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T, Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, and Bezzina CR

Published
2021
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