Search Results - "KHAYAT, Morad"

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality by Abu Hanna, Firas, Zehavi, Yoav, Cohen-Barak, Eran, Khayat, Morad, Warwar, Nasim, Shreter, Roni, Rodenburg, Richard J, Spiegel, Ronen

“…Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone…”
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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss by Danial-Farran, Nada, Chervinsky, Elena, Nadar-Ponniah, Prathamesh T, Cohen Barak, Eran, Taiber, Shahar, Khayat, Morad, Avraham, Karen B, Shalev, Stavit A

“…Since 1999, the COCH gene encoding cochlin, has been linked to the autosomal dominant non-syndromic hearing loss, DFNA9, with or without vestibular…”
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Genetics of hearing loss in the Arab population of Northern Israel by Danial-Farran, Nada, Brownstein, Zippora, Gulsuner, Suleyman, Tammer, Luna, Khayat, Morad, Aleme, Ola, Chervinsky, Elena, Zoubi, Olfat Aboleile, Walsh, Tom, Ast, Gil, King, Mary-Claire, Avraham, Karen B, Shalev, Stavit A

“…For multiple generations, much of the Arab population of Northern Israel has lived in communities with consanguineous marriages and large families. These…”
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Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p by Gunay-Aygun, Meral, Zivony-Elboum, Yifat, Gumruk, Fatma, Geiger, Dan, Cetin, Mualla, Khayat, Morad, Kleta, Robert, Kfir, Nehama, Anikster, Yair, Chezar, Judith, Arcos-Burgos, Mauricio, Shalata, Adel, Stanescu, Horia, Manaster, Joseph, Arat, Mutlu, Edwards, Hailey, Freiberg, Andrew S., Hart, P. Suzanne, Riney, Lauren C., Patzel, Katherine, Tanpaiboon, Pranoot, Markello, Tom, Huizing, Marjan, Maric, Irina, Horne, McDonald, Kehrel, Beate E., Jurk, Kerstin, Hansen, Nancy F., Cherukuri, Praveen F., Jones, Marypat, Cruz, Pedro, Mullikin, Jim C., Nurden, Alan, White, James G., Gahl, William A., Falik-Zaccai, Tzippora

“…Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical…”
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A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family by Khayat, Morad, Tilghman, Joseph Mark, Chervinsky, Ilana, Zalman, Lucia, Chakravarti, Aravinda, Shalev, Stavit A.

“…Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies–Hypotonia–Seizures…”
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Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population by Gafni-Amsalem, Chen, Aboleil-Zoubi, Olfat, Chervinsky, Elena, Aleme, Ola, Khayat, Morad, Bashir, Husam, Perets, Lilach Peled, Mamluk, Efrat, Hakrosh, Shadia, Kurtzman, Shoshi, Tamir, Liron, Baram-Tsabari, Ayelet, Shalev, Stavit A.

“…Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier Screening…”
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Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome by Cohen‐Barak, Eran, Mwassi, Bannan, Zagairy, Fadia, Danial‐Farran, Nada, Khayat, Morad, Tatour, Yasmin, Ziv, Michael

“…Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin…”
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An Update on the Cutaneous Manifestations of Darier Disease by Yeshurun, Algit, Ziv, Michael, Cohen-Barak, Eran, Vered, Shiraz, Rozenman, Dganit, Sah, Muhammad, Khayat, Morad, Polyakov, Olga, Amichai, Boaz, Zlotogorski, Abraham, Shalev, Stavit, Dodiuk-Gad, Roni P.

“…Background Knowledge about the clinical features of Darier disease, an orphan autosomal-dominant genetic disorder, is sparse and has been evaluated only in few…”
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Chromosomal microarray should be performed for cases of fetal short long bones detected prenatally by Tzadikevitch Geffen, Keren, Singer, Amihood, Maya, Idit, Sagi-Dain, Lena, Khayat, Morad, Ben-Shachar, Shay, Daum, Hagit, Michaelson-Cohen, Rachel, Feingold-Zadok, Michal, Sukenik Halevy, Rivka

“…Purpose To investigate the prevalence of pathogenic and likely-pathogenic variants detected by chromosomal microarray analysis (CMA), among pregnancies with…”
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Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat by Berginer, Vladimir M, Gross, Bella, Morad, Khayat, Kfir, Nechama, Morkos, Siman, Aaref, Salameh, Falik-Zaccai, Tzipora C

“…Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic…”
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Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans by Cohen-Barak, Eran, Danial-Farran, Nada, Hammad, Helwa, Aleme, Ola, Krauz, Judith, Gavish, Ester, Khayat, Morad, Ziv, Michael, Shalev, Stavit

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A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay by Hexner-Erlichman, Zufit, Fichtman, Boris, Zehavi, Yoav, Khayat, Morad, Jabaly-Habib, Haneen, Izhaki-Tavor, Lee S, Dessau, Moshe, Elpeleg, Orly, Spiegel, Ronen

“…Cleft lip and/or cleft palate are a common group of birth defects that further classify into syndromic and non-syndromic forms. The syndromic forms are usually…”
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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome by Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly

“…Dilated cardiomyopathy (DCM) is a life‐threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged…”
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A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability by Falik-Zaccai, Tzipora C., Khayat, Morad, Luder, Anthony, Frenkel, Pnina, Magen, Daniella, Brik, Riva, Gershoni-Baruch, Ruth, Mandel, Hanna

“…Prolidase deficiency (PD) is a rare, pan‐ethnic, autosomal recessive disease with a broad phenotypic spectrum. Seventeen causative mutations in the PEPD gene…”
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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome by Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly

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Population screening in a Druze community: the challenge and the reward by Falik-Zaccai, Tzipora C., Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L., Khayat, Morad

“…The Druze community is characterized by consanguinity and endogamy, and by reluctance to genetic testing and technological interventions for the prevention of…”
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Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population by Abu Sa'd, Judeh, Indelman, Margarita, Pfendner, Ellen, Falik-Zaccai, Tzipora C., Mizrachi-Koren, Mordechai, Shalev, Stavit, Amitai, Dani Ben, Raas-Rothshild, Annick, Adir-Shani, Ayelet, Borochowitz, Zvi-Uri, Gershoni-Baruch, Ruth, Khayat, Morad, Landau, Daniela, Richard, Gabriele, Bergman, Reuven, Uitto, Jouni, Kanaan, Moien, Sprecher, Eli

“…Epidermolysis bullosa (EB) encompasses a large group of inherited blistering skin disorders caused by mutations in at least 10 genes. Numerous studies, mainly…”
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Molecular Characterization and High Expression During Oocyte Development of a Shrimp Ovarian Cortical Rod Protein Homologous to Insect Intestinal Peritrophins by KHAYAT, Morad, BABIN, Patrick J, FUNKENSTEIN, Bruria, SAMMAR, Marei, NAGASAWA, Hiromichi, TIETZ, Aliza, LUBZENS, Esther

“…Penaeoid shrimp oocytes nearing the completion of oogenesis are enveloped in an acellular vitelline envelope and possess extracellular cortical rods (CRs) that…”
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Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene by Atzmony, Lihi, Zagairy, Fadia, Mawassi, Banan, Shehade, Majd, Tatour, Yasmin, Danial-Farran, Nada, Khayat, Morad, Warrour, Nassim, Dodiuk-Gad, Roni, Cohen-Barak, Eran

“…Darier disease (DD) is a rare genetic skin disorder caused by heterozygous variants in the ATP2A2 gene. Clinical manifestations include recurrent…”
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Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I deficiency by Khayat, Morad

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