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Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

Publikováno v: Clinical Genetics. 91:902-907

Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a57a653eb382ebad2173034d40344655
https://doi.org/10.1111/cge.12916

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High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel

Autor: Mordechai Shohat, Lina Basel-Vanagaite, Moien Kanaan, Alexander E Volk, Katrin Friedrich, Guntram Borck, Nurit Magal, Christian Kubisch, Limor Rainshtein, Ellen Taub, S Hellman-Aharony

Publikováno v: Clinical Genetics. 82:271-276

Autosomal-recessive non-syndromic hearing impairment (DFNB) is usually of prelingual onset with a moderate to profound degree of hearing loss. More than 70 DFNB loci have been mapped and ~40 causative genes have been identified. Non-syndromic hearing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62268e228709f931d94be3e1ad1a6644
https://doi.org/10.1111/j.1399-0004.2011.01741.x

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Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel

Autor: Nurit Magal, Valerie Drasinover, Joël Zlotogora, Ellen Taub, Lina Basel-Vanagaite, Alona Brudner, Mordechai Shohat

Publikováno v: Genetic Testing. 12:53-56

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive muscle weakness. It is caused by a mutation in the survival motor neuron gene 1 (SMN1) gene. SMA with respiratory distress 1 (SMARD1), an uncommon variant of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2780d4ddb1eb492405bc2b5c07480ed6
https://doi.org/10.1089/gte.2007.0030

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Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

Autor: Nurit Magal, Bella Davidov, Gabrielle J. Halpern, Valerie Drasinover, Ellen Taub, Mordechai Shohat, Lina Basel-Vanagaite, Joël Zlotogora

Publikováno v: European Journal of Human Genetics. 15:250-253

Nonsyndromic mental retardation (NSMR) is the diagnosis of exclusion in mentally retarded individuals without additional abnormalities. We have recently identified a protein-truncating mutation, G408fsX437, in the gene CC2D1A on chromosome 19p13.12 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2de4d2ffd0f3af0f7589c126fca2a28
https://doi.org/10.1038/sj.ejhg.5201750

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Prenatal Diagnosis in Li-Fraumeni Syndrome

Autor: Hadar Benyaminy, Smadar Avigad, Isaac Yaniv, Rina Zaizov, Dalit Barel, Dan Peleg, Noa Ben-Baruch, Yacov Goshen, Mordechai Shohat, Ian J. Cohen, Ellen Taub

Publikováno v: Journal of Pediatric Hematology/Oncology. 26:541-545

The hallmark of Li-Fraumeni syndrome (LFS), a familial cancer syndrome, is constitutional TP53 mutation. The authors addressed the complex question of predictive prenatal genetic testing for cancer risk associated with inheritance of TP53 mutation.A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e4bb8e6d752cc0bc1f179d18baab26
https://doi.org/10.1097/01.mph.0000139452.45209.ad

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New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

Autor: Lina Basel-Vanagaite, Boaz Karmazin, Gil Klinger, Mordechai Shohat, Lea Sirota, Nufar Marcus, Ellen Taub, Orly Levit

Publikováno v: American Journal of Medical Genetics. :200-206

We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47bc86dffc1da652b7fbae6193c0763
https://doi.org/10.1002/ajmg.a.20133

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Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

Autor: Idit Maya, Bella Davidov, Justine Coppinger, Lisa G. Shaffer, Yael Zalzstein, Liron Gershovitz, Ellen Taub, Mordechai Shohat

Publikováno v: Prenatal diagnosis. 30(12-13)

Objective Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications. There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc3df8dfd7a4e336b2e4dac516b8369
https://pubmed.ncbi.nlm.nih.gov/20925131

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Increased transmission of intermediate alleles of theFMR1 gene compared with normal alleles among female heterozygotes

Autor: Vitalia Libman, Tamy Shohat, Mordechai Shohat, Ellen Taub, Sophia Ehrlich, Gabrielle J. Halpern, Valerie Drasinover, Nurit Magal

Publikováno v: American Journal of Medical Genetics. 93:155-157

Fragile X syndrome (Fra X) is the most common heritable disease accounting for mental retardation and is caused by an expanded CGG repeat in the first exon of the FMR1gene. Previous studies have shown an increased fertility rate among fragile X carri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca14dd6e1b07675f9e063039864ba550
https://doi.org/10.1002/1096-8628(20000717)93:2<155::aid-ajmg13>3.0.co

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Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene

Autor: Ellen Taub, Jacques Drouin, Yael Lebenthal, Gil Klinger, Sophie Vallette-Kasic, Naomi Weintrob, Efrat Bron-Harlev, Daphna Marom, Mordechai Shohat

Publikováno v: Pediatrics. 117(2)

Isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated cause of neonatal death. Early postnatal diagnosis may prevent hypoglycemic seizures, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723b59282f801ad9159ff5bdc6925305
https://pubmed.ncbi.nlm.nih.gov/16390921

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