Search Results - "Nezarati, Marjan M"

Increased LIS1 expression affects human and mouse brain development by Lu, Xin-Yan, Horner, Michele, Day-Salvatore, Debra-Lynn, Sahoo, Trilochan, Withers, Marjorie A, Cheung, Sau Wai, Gunderson, Kevin L, Hunter, Jill V, Sapir, Tamar, Peiffer, Daniel A, Yanagawa, Yuchio, Reiner, Orly, Shchelochkov, Oleg A, Levy, Talia, Lupski, James R, Nezarati, Marjan M, Martinez, Salvador, Savage, Sarah K, Shinder, Vera, Harris, David J, Ann Shotts, Vern, Bi, Weimin, Amato, Stephen S, Beaudet, Arthur L, Zhang, Feng

“…James Lupski, Orly Reiner and colleagues report seven individuals with submicroscopic copy number gains in the 17p13.3 region, supported by additional studies…”
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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent by Su, Julia X., Velsher, Lea S., Juusola, Jane, Nezarati, Marjan M.

“…Deletions and pathogenic sequence variants in Myeloid Ecotropic Insertion Site 2 (MEIS2) gene have been reported to cause a recognizable triad of intellectual…”
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome by Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

“…Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals…”
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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. () by Chitayat, David, Shannon, Patrick, Uster, Tami, Nezarati, Marjan M., Schnur, Rhonda E., Bhoj, Elizabeth J.

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families by AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.

“…Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients,…”
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy by Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

“…Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis‐microcolon intestinal hypoperistalsis syndrome…”
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy by de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van 't Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C

“…Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we…”
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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome by White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

“…The DNA damage-binding protein 1 (DDB1) is part of the CUL4–DDB1 ubiquitin E3 ligase complex (CRL4), which is essential for DNA repair, chromatin remodeling,…”
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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes by Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, van Haelst, Mieke M.

“…Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is…”
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Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs by Saleh, Maha, Miron, Ioana, Al-Rukban, Hadeel, Chitayat, David, Nezarati, Marjan M.

“…What's Already Known About This Topic? There are no publications linking prenatally detected hepatic arteriovenous malformations (AVM) with the diagnosis of…”
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Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis by Ladhani, Noor Niyar N., Chitayat, David, Nezarati, Marjan M., Laureane, Mittaz Crettol, Keating, Sarah, Silver, Rachel J., Unger, Sheila, Velsher, Lea, Sirkin, Wilma, Toi, Ants, Glanc, Phyllis

“…ABSTRACT Objectives The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with…”
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A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome by Ben‐Omran, Tawfeg I., Cerosaletti, Karen, Concannon, Patrick, Weitzman, Sheila, Nezarati, Marjan M.

“…The clinical phenotype of Ligase IV syndrome (LIG4 syndrome), an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene, closely…”
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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome) by Thompson, Miles D., Roscioli, Tony, Marcelis, Carlo, Nezarati, Marjan M., Stolte-Dijkstra, Irene, Sharom, Frances J., Lu, Peihua, Phillips, John A., Sweeney, Elizabeth, Robinson, Peter N., Krawitz, Peter, Yntema, Helger G., Andrade, Danielle M., Brunner, Han G., Cole, David E.C.

“…Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. [1970]. Although considered…”
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Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome by Thompson, Miles D., Nezarati, Marjan M., Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mendoza, Roberto, Mornet, Etienne, Brun-Heath, Isabelle, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Cole, David E.C.

“…Persistent hyperphosphatasia associated with developmental delay and seizures was described in a single family by Mabry et al. 1970 (OMIM 239300), but the…”
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Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas by Hunter, Alasdair G.W., Nezarati, Marjan M., Velsher, Lea

“…Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a…”
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13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion by Thompson, Miles D, Nezarati, Marjan M, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mornet, Etienne, Brun-Heath, Isabelle, Prost Squarcioni, Catherine, Cole, David E.C, Siminovitch, Kathy, Hwang, Paul A, McIntyre Burnham, W, Munnich, Arnold, Brunner, Han

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Corrigendum to "Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome" Am J Med Genet 152A: 1661-1669 by Thompson, Miles D., Nezarati, Marjan M., Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mendoza-Londono, Roberto, Mornet, Etienne, Brun-Heath, Isabelle, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Cole, David E.C.

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Characterizing the oculoauriculofrontonasal syndrome by Gabbett, Michael T., Robertson, Stephen P., Broadbent, Roland, Aftimos, Salim, Sachdev, Rani, Nezarati, Marjan M.

“…Human dysmorphology syndromes are frequently defined by characteristic abnormalities in facial morphogenesis. Two such well recognized syndromes are the…”
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Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity? by Nezarati, Marjan M., Aftimos, Salim

“…The differential diagnosis of syndromes with anomalies of the first and second branchial arches includes the oculo-auriculo-vertebral syndrome, the…”
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7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features by Thompson, Miles D, Nezarati, Marjan M, Mabry, Charleton C, Deardorff, Matthew A, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Siminovitch, Kathy, Marcelis, Carlo L, Brunner, Han G, Hwang, Paul A, Cole, David E.C

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