檢索結果 - Karimiani, Ehsan Ghayoor

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis 由 Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam

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Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report 由 Lekszas, Caroline, Nanda, Indrajit, Vona, Barbara, Böck, Julia, Ashrafzadeh, Farah, Donyadideh, Nahid, Ebrahimzadeh, Farnoosh, Ahangari, Najmeh, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Haaf, Thomas

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A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East 由 Najafi, Maryam, Tamandani, Dor Mohammad Kordi, Azarfar, Anoush, Bakey, Zeineb, Behjati, Farkhondeh, Antony, Dinu, Schüle, Isabel, Sadeghi-Bojd, Simin, Karimiani, Ehsan Ghayoor, Schmidts, Miriam

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JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma 由 Ayatollahi, Hossein, Sadeghian, Mohammad Hadi, Keramati, Mohammad Reza, Karimiani, Ehsan Ghayoor, Jafarian, Amir Hossein, Shirdel, Abbas, Rahimi, Hossein, Zangane-Far, Mohammad Esmaeel, Shajiei, Arezoo, Sheikhi, Maryam

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome 由 Rad, Aboulfazl, Najafi, Maryam, Suri, Fatemeh, Abedini, Soheila, Loum, Stephen, Karimiani, Ehsan Ghayoor, Daftarian, Narsis, Murphy, David, Doosti, Mohammad, Moghaddasi, Afrooz, Ahmadieh, Hamid, Sabbaghi, Hamideh, Rajati, Mohsen, Hashemi, Narges, Vona, Barbara, Schmidts, Miriam

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Expanding the clinical phenotype of IARS2-related mitochondrial disease 由 Vona, Barbara, Maroofian, Reza, Bellacchio, Emanuele, Najafi, Maryam, Thompson, Kyle, Alahmad, Ahmad, He, Langping, Ahangari, Najmeh, Rad, Abolfazl, Shahrokhzadeh, Sima, Bahena, Paulina, Mittag, Falk, Traub, Frank, Movaffagh, Jebrail, Amiri, Nafise, Doosti, Mohammad, Boostani, Reza, Shirzadeh, Ebrahim, Haaf, Thomas, Diodato, Daria, Schmidts, Miriam, Taylor, Robert W., Karimiani, Ehsan Ghayoor

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Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia 由 Oosterhof, Nynke, Chang, Irene J., Karimiani, Ehsan Ghayoor, Kuil, Laura E., Jensen, Dana M., Daza, Ray, Young, Erica, Astle, Lee, van der Linde, Herma C., Shivaram, Giridhar M., Demmers, Jeroen, Latimer, Caitlin S., Keene, C. Dirk, Loter, Emily, Maroofian, Reza, van Ham, Tjakko J., Hevner, Robert F., Bennett, James T.

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Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 由 Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy 由 del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., Ramón-Maiques, Santiago

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects 由 Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie

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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay 由 Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N., Mancini, Grazia M.S., Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M. Chiara, Beiraghi Toosi, Mehran, Gleeson, Joseph G.

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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia 由 Wagner, Matias, Osborn, Daniel P. S., Gehweiler, Ina, Nagel, Maike, Ulmer, Ulrike, Bakhtiari, Somayeh, Amouri, Rim, Boostani, Reza, Hentati, Faycal, Hockley, Maryam M., Hölbling, Benedikt, Schwarzmayr, Thomas, Karimiani, Ehsan Ghayoor, Kernstock, Christoph, Maroofian, Reza, Müller-Felber, Wolfgang, Ozkan, Ege, Padilla-Lopez, Sergio, Reich, Selina, Reichbauer, Jennifer, Darvish, Hossein, Shahmohammadibeni, Neda, Tafakhori, Abbas, Vill, Katharina, Zuchner, Stephan, Kruer, Michael C., Winkelmann, Juliane, Jamshidi, Yalda, Schüle, Rebecca

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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy 由 Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features 由 Scala, Marcello, Chua, Geok Lin, Chin, Cheen Fei, Alsaif, Hessa S., Borovikov, Artem, Riazuddin, Saima, Riazuddin, Sheikh, Chiara Manzini, M., Severino, Mariasavina, Kuk, Alvin, Fan, Hao, Jamshidi, Yalda, Toosi, Mehran Beiraghi, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Dadali, Elena, Baydakova, Galina, Konovalov, Fedor, Lozier, Ekaterina, O’Connor, Emer, Sabr, Yasser, Alfaifi, Abdullah, Ashrafzadeh, Farah, Striano, Pasquale, Zara, Federico, Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza, Silver, David L.

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Biallelic variants in KIF14 cause intellectual disability with microcephaly 由 Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 由 Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function 由 Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam

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Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 由 Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D’Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D., Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K., Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, Salpietro, Vincenzo

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation 由 Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency 由 Volpi, Stefano, Cicalese, Maria Pia, Tuijnenburg, Paul, Tool, Anton T. J., Cuadrado, Eloy, Abu-Halaweh, Marwan, Ahanchian, Hamid, Alzyoud, Raed, Akdemir, Zeynep Coban, Barzaghi, Federica, Blank, Alexander, Boisson, Bertrand, Bottino, Cristina, Brigida, Immacolata, Caorsi, Roberta, Casanova, Jean-Laurent, Chiesa, Sabrina, Chinn, Ivan Kingyue, Dückers, Gregor, Enders, Anselm, Erichsen, Hans Christian, Forbes, Lisa R., Gambin, Tomasz, Gattorno, Marco, Karimiani, Ehsan Ghayoor, Giliani, Silvia, Gold, Michael S., Jacobsen, Eva-Maria, Jansen, Machiel H., King, Jovanka R., Laxer, Ronald M., Lupski, James R., Mace, Emily, Marcenaro, Stefania, Maroofian, Reza, Meijer, Alexander B., Niehues, Tim, Notarangelo, Luigi D., Orange, Jordan, Pannicke, Ulrich, Pearson, Chris, Picco, Paolo, Quinn, Patrick J., Schulz, Ansgar, Seeborg, Filiz, Stray-Pedersen, Asbjørg, Tawamie, Hasan, van Leeuwen, Ester M. M., Aiuti, Alessandro, Yeung, Rae, Schwarz, Klaus, Kuijpers, Taco W.

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