Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge?

Por Kariminejad, Ariana, Bozorgmehr, Bita, Khatami, Alireza, Kariminejad, Mohamad-Hasan, Giunta, Cecilia, Steinmann, Beat
Publicado em 2010

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

Por Kariminejad, Ariana, Almadani, Navid, Khoshaeen, Atefeh, Olsson, Bjorn, Moslemi, Ali-Reza, Tajsharghi, Homa
Publicado no BMC Genet (2016)

VSX2 mutations in autosomal recessive microphthalmia

Por Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V.
Publicado em 2011

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Por Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
Publicado no Eur J Hum Genet (2016)

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Por Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V.
Publicado no PLoS Genet (2015)

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum

Por Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Hossein-Nejad Nedai, Hamid, Varasteh, Vahid, Moslemi, Ali-Reza, Tajsharghi, Homa
Publicado no BMC Musculoskelet Disord (2016)

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

Por Najafi, Kimia, Kariminejad, Roxana, Hosseini, Kaveh, Moshtagh, Azadeh, Abbassi, Gole Maryam, Sadatian, Neda, Bazrgar, Masood, Kariminejad, Ariana, Kariminejad, Mohamad Hassan
Publicado no Case Rep Genet (2017)

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

Por Kariminejad, Ariana, Kariminejad, Roxana, Moshtagh, Azadeh, Zanganeh, Maryam, Kariminejad, Mohammad Hassan, Neuenschwander, Stefan, Okoniewski, Michal, Wey, Eva, Schinzel, Albert, Baumer, Alessandra
Publicado em 2011

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations

Por BOZORGMEHR, Bita, KARIMINEJAD, Ariana, NAFISSI, Shahriar, JEBELLI, Bita, ANDONI, Urtizberea, GARTIOUx, Corine, LEDEUIL, Celine, ALLAMAND, Valérie, RICHARD, Pascale, KARIMINEJAD, Mohammad-Hassan
Publicado em 2013

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report

Por Norgett, Elizabeth E., Yii, Anthony, Blake-Palmer, Katherine G., Sharifian, Mostafa, Allen, Louise E., Najafi, Abdolhamid, Kariminejad, Ariana, Frankl, Fiona E. Karet
Publicado no BMC Med Genet (2015)

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Por Rohrbach, Marianne, Vandersteen, Anthony, Yiş, Uluç, Serdaroglu, Gul, Ataman, Esra, Chopra, Maya, Garcia, Sixto, Jones, Kristi, Kariminejad, Ariana, Kraenzlin, Marius, Marcelis, Carlo, Baumgartner, Matthias, Giunta, Cecilia
Publicado em 2011

Kaufman Oculo-cerebro-facial Syndrome in a child with small and absent terminal phalanges and absent nails

Por Kariminejad, Ariana, Ajeawung, Norbert Fonya, Bozorgmehr, Bita, Dionne-Laporte, Alexandre, Molidperee, Sirinart, Najafi, Kimia, Gibbs, Richard A, Lee, Brendan H, Hennekam, Raoul C, Campeau, Philippe M
Publicado no J Hum Genet (2016)

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Por Kariminejad, Ariana, Afroozan, Fariba, Bozorgmehr, Bita, Ghanadan, Alireza, Akbaroghli, Susan, Khorram Khorshid, Hamid Reza, Mojahedi, Faezeh, Setoodeh, Aria, Loh, Abigail, Tan, Yu Xuan, Escande-Beillard, Nathalie, Malfait, Fransiska, Reversade, Bruno, Gardeitchik, Thatjana, Morava, Eva
Publicado no Int J Mol Sci (2017)

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Por Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E., Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A., Yesilyurt, Ahmet, McCarty, Catherine A., Kitchner, Terrie E., Costakos, Deborah, Semina, Elena V.
Publicado no Mol Vis (2016)

Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder

Por Malfait, Fransiska, Kariminejad, Ariana, Van Damme, Tim, Gauche, Caroline, Syx, Delfien, Merhi-Soussi, Faten, Gulberti, Sandrine, Symoens, Sofie, Vanhauwaert, Suzanne, Willaert, Andy, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Ebrahimiadib, Nazanin, Hausser, Ingrid, Huysseune, Ann, Fournel-Gigleux, Sylvie, De Paepe, Anne
Publicado em 2013

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Por Gardeitchik, Thatjana, Mohamed, Miski, Fischer, Björn, Lammens, Martin, Lefeber, Dirk, Lace, Baiba, Parker, Michael, Kim, Ki-Joong, Lim, Bing C, Häberle, Johannes, Garavelli, Livia, Jagadeesh, Sujatha, Kariminejad, Ariana, Guerra, Deanna, Leão, Michel, Keski-Filppula, Riikka, Brunner, Han, Nijtmans, Leo, van den Heuvel, Bert, Wevers, Ron, Kornak, Uwe, Morava, Eva
Publicado em 2014

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Por Todd, Emily J., Yau, Kyle S., Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P., Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F., Freckmann, Mary-Louise, Romero, Norma B., Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M., Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J.N., Beeson, David, Maxwell, Susan, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
Publicado no Orphanet J Rare Dis (2015)

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Por Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin
Publicado em 2014

Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum

Por Matejas, Verena, Hinkes, Bernward, Alkandari, Faisal, Al-Gazali, Lihadh, Annexstad, Ellen, Aytac, Mehmet B., Barrow, Margaret, Bláhová, Kvĕta, Bockenhauer, Detlef, Cheong, Hae Il, Maruniak-Chudek, Iwona, Cochat, Pierre, Dötsch, Jörg, Gajjar, Priya, Hennekam, Raoul C., Janssen, Françoise, Kagan, Mikhail, Kariminejad, Ariana, Kemper, Markus J., Koenig, Jens, Kogan, Jillene, Kroes, Hester Y., Kuwertz-Bröking, Eberhard, Lewanda, Amy F., Medeira, Ana, Muscheites, Jutta, Niaudet, Patrick, Pierson, Michel, Saggar, Anand, Seaver, Laurie, Suri, Mohnish, Tsygin, Alexey, Wühl, Elke, Zurowska, Aleksandra, Uebe, Steffen, Hildebrandt, Friedhelm, Antignac, Corinne, Zenker, Martin
Publicado em 2010

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Por Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Publicado em 2011