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6. DNA methylation signatures in Blood DNA of Hutchinson–Gilford Progeria syndrome

Author

Bejaoui, Yosra, primary, Razzaq, Aleem, additional, Yousri, Noha A., additional, Oshima, Junko, additional, Megarbane, Andre, additional, Qannan, Abeer, additional, Potabattula, Ramya, additional, Alam, Tanvir, additional, Martin, George M., additional, Horn, Henning F., additional, Haaf, Thomas, additional, Horvath, Steve, additional, and El Hajj, Nady, additional

Published
2022
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7. Author response for 'Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities'

Author

null Alawbathani, Salem, null Westenberger, Ana, null Ordonez-Herrera, Natalia, null Al-Hilali, Mariam, null Al Hebby, Homoud, null Al Abbas, Fahad, null Alhashem, Amal M., null Elyamany, Ghaleb, null Megarbane, Andre, null Kose, Melis, null Alhashmi, Nadia, null Al Sukaiti, Nashat, null Al-Raqad, Mohammed, null Al-Tawalbeh, Samah, null Blanco, Omar Abu Adas, null Alkhattabi, Fadiah, null Sng, Danielle, null Al-Ali, Ruslan, null Khan, Suliman, null Tawamie, Hasan, null Tripolszki, Kornelia, null Karageorgou, Vasiliki, null Trunzo, Roberta, null Al Mutairi, Fuad, null Reversade, Bruno, null Bauer, Peter, and null Bertoli-Avella, Aida M.

Published
2021

8. Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling

Author

Umar, Meenakshi, primary, Megarbane, Andre, additional, Shan, Jingxuan, additional, Syed, Najeeb, additional, Chouery, Eliane, additional, Aliyev, Elbay, additional, Jithesh, Puthen, additional, Temanni, Ramzi, additional, Mansour, Issam, additional, Chouchane, Lotfi, additional, and Ismail Chouchane, Aouatef, additional

Published
2020
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9. Turner syndrome in diverse populations

Author

Kruszka, Paul, primary, Addissie, Yonit A., additional, Tekendo‐Ngongang, Cedrik, additional, Jones, Kelly L., additional, Savage, Sarah K., additional, Gupta, Neerja, additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Paththinige, C. Sampath, additional, Aravena, Teresa, additional, Nampoothiri, Sheela, additional, Yesodharan, Dhanya, additional, Girisha, Katta M., additional, Patil, Siddaramappa Jagdish, additional, Jamuar, Saumya Shekhar, additional, Goh, Jasmine Chew‐Yin, additional, Utari, Agustini, additional, Sihombing, Nydia, additional, Mishra, Rupesh, additional, Chitrakar, Neer Shoba, additional, Iriele, Brenda C., additional, Lulseged, Ezana, additional, Megarbane, Andre, additional, Uwineza, Annette, additional, Oyenusi, Elizabeth Eberechi, additional, Olopade, Oluwarotimi Bolaji, additional, Fasanmade, Olufemi Adetola, additional, Duenas‐Roque, Milagros M., additional, Thong, Meow‐Keong, additional, Tung, Joanna Y. L., additional, Mok, Gary T. K., additional, Fleischer, Nicole, additional, Rwegerera, Godfrey M., additional, Herreros, María Beatriz, additional, Watts, Johnathan, additional, Fieggen, Karen, additional, Huckstadt, Victoria, additional, Moresco, Angélica, additional, Obregon, María Gabriela, additional, Hussen, Dalia Farouk, additional, Ashaat, Neveen A., additional, Ashaat, Engy A., additional, Chung, Brian H. Y., additional, Badoe, Eben, additional, Faradz, Sultana M. H., additional, El Ruby, Mona O., additional, Shotelersuk, Vorasuk, additional, Wonkam, Ambroise, additional, Ekure, Ekanem Nsikak, additional, Phadke, Shubha R., additional, Richieri‐Costa, Antonio, additional, and Muenke, Maximilian, additional

Published
2019
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10. Cornelia de Lange syndrome in diverse populations

Author

Dowsett, Leah, primary, Porras, Antonio R., additional, Kruszka, Paul, additional, Davis, Brandon, additional, Hu, Tommy, additional, Honey, Engela, additional, Badoe, Eben, additional, Thong, Meow‐Keong, additional, Leon, Eyby, additional, Girisha, Katta M., additional, Shukla, Anju, additional, Nayak, Shalini S., additional, Shotelersuk, Vorasuk, additional, Megarbane, Andre, additional, Phadke, Shubha, additional, Sirisena, Nirmala D., additional, Dissanayake, Vajira H. W., additional, Ferreira, Carlos R., additional, Kisling, Monisha S., additional, Tanpaiboon, Pranoot, additional, Uwineza, Annette, additional, Mutesa, Leon, additional, Tekendo‐Ngongang, Cedrik, additional, Wonkam, Ambroise, additional, Fieggen, Karen, additional, Batista, Leticia Cassimiro, additional, Moretti‐Ferreira, Danilo, additional, Stevenson, Roger E., additional, Prijoles, Eloise J., additional, Everman, David, additional, Clarkson, Kate, additional, Worthington, Jessica, additional, Kimonis, Virginia, additional, Hisama, Fuki, additional, Crowe, Carol, additional, Wong, Paul, additional, Johnson, Kisha, additional, Clark, Robin D., additional, Bird, Lynne, additional, Masser‐Frye, Diane, additional, McDonald, Marie, additional, Willems, Patrick, additional, Roeder, Elizabeth, additional, Saitta, Sulgana, additional, Anyane‐Yeoba, Kwame, additional, Demmer, Laurie, additional, Hamajima, Naoki, additional, Stark, Zornitza, additional, Gillies, Greta, additional, Hudgins, Louanne, additional, Dave, Usha, additional, Shalev, Stavit, additional, Siu, Victoria, additional, Gupta, Neerja, additional, Kabra, Madhulika, additional, Ades, Ann, additional, Dubbs, Holly, additional, Raible, Sarah, additional, Kaur, Maninder, additional, Salzano, Emanuela, additional, Jackson, Laird, additional, Deardorff, Matthew, additional, Kline, Antonie, additional, Summar, Marshall, additional, Muenke, Maximilian, additional, Linguraru, Marius George, additional, and Krantz, Ian D., additional

Published
2019
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11. 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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12. 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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13. Cover Image, Volume 173A, Number 9, September 2017

Author

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

Published
2017
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14. Noonan syndrome in diverse populations

Author

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

Published
2017
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15. Whole-exome sequencing identified a homozygousFNBP4mutation in a family with a condition similar to microphthalmia with limb anomalies

Author

Kondo, Yukiko, primary, Koshimizu, Eriko, additional, Megarbane, Andre, additional, Hamanoue, Haruka, additional, Okada, Ippei, additional, Nishiyama, Kiyomi, additional, Kodera, Hirofumi, additional, Miyatake, Satoko, additional, Tsurusaki, Yoshinori, additional, Nakashima, Mitsuko, additional, Doi, Hiroshi, additional, Miyake, Noriko, additional, Saitsu, Hirotomo, additional, and Matsumoto, Naomichi, additional

Published
2013
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16. Genotype-phenotype analysis of the branchio-oculo-facial syndrome

Author

Milunsky, Jeff M., primary, Maher, Tom M., additional, Zhao, Geping, additional, Wang, Zhenyuan, additional, Mulliken, John B., additional, Chitayat, David, additional, Clemens, Michele, additional, Stalker, Heather J., additional, Bauer, Mislen, additional, Burch, Michele, additional, Chénier, Sébastien, additional, Cunningham, Michael L., additional, Drack, Arlene V., additional, Janssens, Sandra, additional, Karlea, Audrey, additional, Klatt, Regan, additional, Kini, Usha, additional, Klein, Ophir, additional, Lachmeijer, Augusta M., additional, Megarbane, Andre, additional, Mendelsohn, Nancy J., additional, Meschino, Wendy S., additional, Mortier, Geert R., additional, Parkash, Sandhya, additional, Ray, C. Renai, additional, Roberts, Angharad, additional, Roberts, Amy, additional, Reardon, Willie, additional, Schnur, Rhonda E., additional, Smith, Rosemarie, additional, Splitt, Miranda, additional, Tezcan, Kamer, additional, Whiteford, Margo L., additional, Wong, Derek A., additional, Zori, Roberto, additional, and Lin, Angela E., additional

Published
2010
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17. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

Author

Hamanoue, Haruka, primary, Megarbane, Andre, additional, Tohma, Takaya, additional, Nishimura, Akira, additional, Mizuguchi, Takeshi, additional, Saitsu, Hirotomo, additional, Sakai, Haruya, additional, Miura, Shoko, additional, Toda, Tatsushi, additional, Miyake, Noriko, additional, Niikawa, Norio, additional, Yoshiura, Koichiro, additional, Hirahara, Fumiki, additional, and Matsumoto, Naomichi, additional

Published
2009
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18. Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.

Author

Chouery E, Mehawej C, Sabbagh S, Bleik J, and Megarbane A

Subjects
Electroencephalography, Female, Homozygote, Humans, Infant, Mutation genetics, Epilepsy genetics, Spasms, Infantile genetics
Abstract

Background and Purpose: Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age at onset, their severity, and their electroencephalographic patterns. Whereas genetic factors are involved in approximately 40% of all epilepsy cases, they contribute to 80% of early infantile EEs (EIEEs), with approximately 125 genes previously linked to this disease., Methods: Whole exome sequencing (WES) was performed in a 9-month-old Lebanese girl presenting with EIEE., Results: WES enabled the detection of a homozygous missense mutation in the NECAP1 gene (NM_015509.3: p.Glu8Lys) in the proband., Conclusions: Here, we report the first homozygous missense mutation in the NECAP1 gene in a 9-month-old girl presenting with EIEE. Our findings allow a better characterization of the NECAP1-linked disease and enable broadening its clinical spectrum by including, in addition to EIEE, severe generalized hypotonia, poor feeding, developmental delay, severe microcephaly, delayed myelination, abnormalities of the corpus callosum, and eye abnormalities., (© 2022 European Academy of Neurology.)

Published
2022
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