Search Results - "Meiner, Vardiella"

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly by Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex V., Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P., Sefiani, Abdelaziz

“…A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial…”
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Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function by Sheffer, Ruth, Douiev, Liza, Edvardson, Simon, Shaag, Avraham, Tamimi, Khaled, Soiferman, Devorah, Meiner, Vardiella, Saada, Ann

“…An emerging class of mitochondrial disorders is caused by mutations in nuclear genes affecting mitochondrial dynamics and function. One of these is the DNM1L…”
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GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism by Szalat, Auryan, Shpitzen, Shoshana, Pollack, Rena, Mazeh, Haggi, Durst, Ronen, Meiner, Vardiella

“…A germline mutation can be identified in up to 10% of patients with primary hyperparathyroidism (PHPT). In 2017, a high frequency of the [(NM_ 004752.4)…”
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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child by Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar

“…Consanguinity, commonplace in many regions around the globe, is associated with an increased risk of autosomal recessive (AR) genetic disorders. Consequently,…”
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MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification by Bauer, Max, Rahat, Dolev, Zisman, Elad, Tabach, Yuval, Lossos, Alexander, Meiner, Vardiella, Arkadir, David

“…Purpose of Review Until recently, the gene associated with the recessive form of familial brain calcification (PFBC, Fahr disease) was unknown. MYORG , a gene…”
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T

“…NMDA receptor agonists have been used for many years to generate animal models of polymicrogyria, a malformation of cortical development. Fry et al. identify…”
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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder by Abu-Libdeh, Bassam, Mor-Shaked, Hagar, Atawna, Amir A, Gillis, David, Halstuk, Orli, Shaul-Lotan, Nava, Slae, Mordechai, Sultan, Mutaz, Meiner, Vardiella, Elpeleg, Orly, Harel, Tamar

“…Rab proteins coordinate inter-organellar vesicle-mediated transport, facilitating intracellular communication, protein recycling, and signaling processes…”
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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay by Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly

“…The transforming growth factor-beta (TGFβ) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant…”
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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? by Daum, Hagit, Meiner, Vardiella, Michaelson-Cohen, Rachel, Sukenik-Halevy, Rivka, Zalcberg, Michal Levy, Bar-Ziv, Anat, Weiden, A Tzvi, Scher, Sholem Y, Shohat, Mordechai, Zlotogora, Joël

“…The founder variant DHCR7:c.964-1G>C causing autosomal recessive Smith-Lemli-Opitz (SLOS) was introduced into the Israeli preconception carrier program for…”
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Multi-system neurological disorder associated with a CRYAB variant by Sadeh, Menachem, Rahat, Dolev, Meiner, Vardiella, Fellig, Yakov, Arad, Michael, Schueler-Furman, Ora, Hu, Ying, Li, Yan, Bönnemann, Carsten G., Lossos, Alexander

“…We report a multiplex family with extended multisystem neurological phenotype associated with a CRYAB variant. Two affected siblings were evaluated with whole…”
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"High-Risk Breast Cancer Screening in BRCA1/2 Carriers Leads to Early Detection and Improved Survival After a Breast Cancer Diagnosis" by Shraga, Shay, Grinshpun, Albert, Zick, Aviad, Kadouri, Luna, Cohen, Yogev, Maimon, Ofra, Adler-Levy, Yael, Zeltzer, Galina, Granit, Avital, Maly, Bella, Carmon, Einat, Meiner, Vardiella, Sella, Tamar, Hamburger, Tamar, Peretz, Tamar

“…Germline pathogenic variant (PV) carriers have high lifetime risk of developing breast cancer and therefore subjected to intense lifetime screening. However,…”
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Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome by Baala, Lekbir, Audollent, Sophie, Martinovic, Jéléna, Ozilou, Catherine, Babron, Marie-Claude, Sivanandamoorthy, Sivanthiny, Saunier, Sophie, Salomon, Rémi, Gonzales, Marie, Rattenberry, Eleanor, Esculpavit, Chantal, Toutain, Annick, Moraine, Claude, Parent, Philippe, Marcorelles, Pascale, Dauge, Marie-Christine, Roume, Joëlle, Merrer, Martine Le, Meiner, Vardiella, Meir, Karen, Menez, Françoise, Beaufrère, Anne-Marie, Francannet, Christine, Tantau, Julia, Sinico, Martine, Dumez, Yves, MacDonald, Fiona, Munnich, Arnold, Lyonnet, Stanislas, Gubler, Marie-Claire, Génin, Emmanuelle, Johnson, Colin A., Vekemans, Michel, Encha-Razavi, Férechté, Attié-Bitach, Tania

“…Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney…”
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Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation by Navarrete, Ana, Kimchi, Adva, Levy, Jaime, Meiner, Vardiella, Amer, Radgonde, Yahalom, Claudia

“…Stickler syndrome is known to cause visual handicap due to the high incidence of retinal detachment. We aim to present an unusual case of a child with Stickler…”
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Grandparental genotyping enhances exome variant interpretation by Daum, Hagit, Mor‐Shaked, Hagar, Ta‐Shma, Asaf, Shaag, Avraham, Silverstein, Shira, Shohat, Mordechai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar

“…Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband‐only…”
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Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship by Spiegel, Ronen, Mandel, Hanna, Saada, Ann, Lerer, Issy, Burger, Ayala, Shaag, Avraham, Shalev, Stavit A, Jabaly-Habib, Haneen, Goldsher, Dorit, Gomori, John M, Lossos, Alex, Elpeleg, Orly, Meiner, Vardiella

“…C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset…”
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome by Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei

“…Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism…”
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Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy by Lerer, Israela, Sagi, Michal, Meiner, Vardiella, Cohen, Tirza, Zlotogora, Joel, Abeliovich, Dvorah

“…A four-generation family was studied in which nine children had congenital cerebral palsy (CP), characterized by quadriplegia and mental retardation. All the…”
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Abstract 18262: Molecular Genetics of Familial Hypercholesterolemia in Israel Revisited by Durst, Ronen, Ibe, Uche Ken, Meiner, Vardiella Meiner, Shpitzen, Shoshi, Schurr, Dani, Eliav, Osnat, Futema, Marta Futema, Whittall, Ros, Humphries, Steve E, Leitersdorf, Eran

“…Abstract only Background: In 1996, the first summary of molecular genetics of familial hypercholesterolemia (FH) in Israel was published (Reshef A, Hum Gen,…”
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On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase by Båvner, Ann, Shafaati, Marjan, Hansson, Magnus, Olin, Maria, Shpitzen, Shoshi, Meiner, Vardiella, Leitersdorf, Eran, Björkhem, Ingemar

“…The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing…”
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The clinical spectrum of fetal Niemann–Pick type C by Spiegel, Ronen, Raas‐Rothschild, Annick, Reish, Orit, Regev, Miriam, Meiner, Vardiella, Bargal, Ruth, Sury, Vivi, Meir, Karen, Nadjari, Michel, Hermann, Gratiana, Iancu, Theodor C., Shalev, Stavit A., Zeigler, Marsha

“…Niemann–Pick type C (NPC) disease is a lysosomal neurovisceral storage disease. The spectrum of the clinical presentation as well as the severity of the…”
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