Mandel H - Search Results

1

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.

Pomponio RJ, Reynolds TR, Mandel H, Admoni O, Melone PD, Buck GA, Wolf B. Pomponio RJ, et al. Among authors: mandel h. Hum Mol Genet. 1997 May;6(5):739-45. doi: 10.1093/hmg/6.5.739. Hum Mol Genet. 1997. PMID: 9158148

2

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A. Bargal R, et al. Among authors: mandel h. Mol Genet Metab. 2006 Aug;88(4):359-63. doi: 10.1016/j.ymgme.2006.03.003. Epub 2006 Apr 21. Mol Genet Metab. 2006. PMID: 16630736

3

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K. Kure S, et al. Among authors: mandel h. Hum Genet. 1998 Apr;102(4):430-4. doi: 10.1007/s004390050716. Hum Genet. 1998. PMID: 9600239

4

Acute infantile liver failure due to mutations in the TRMU gene.

Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Zeharia A, et al. Among authors: mandel h. Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004. Am J Hum Genet. 2009. PMID: 19732863 Free PMC article.

5

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

Shalata A, Mandel H, Reiss J, Szargel R, Cohen-Akenine A, Dorche C, Zabot MT, Van Gennip A, Abeling N, Berant M, Cohen N. Shalata A, et al. Among authors: mandel h. Am J Hum Genet. 1998 Jul;63(1):148-54. doi: 10.1086/301916. Am J Hum Genet. 1998. PMID: 9634514 Free PMC article.

6

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: mandel h. J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12. J Hum Genet. 2017. PMID: 28077841

7

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center; Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: mandel h. J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22. J Hum Genet. 2019. PMID: 30903008

8

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.

Raz T, Barrett T, Szargel R, Mandel H, Neufeld EJ, Nosaka K, Viana MB, Cohen N. Raz T, et al. Among authors: mandel h. Hum Genet. 1998 Oct;103(4):455-61. doi: 10.1007/s004390050850. Hum Genet. 1998. PMID: 9856490

9

Clinical and molecular genetic features of ARC syndrome.

Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER. Gissen P, et al. Among authors: mandel h. Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1. Hum Genet. 2006. PMID: 16896922

10

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Among authors: mandel h. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.

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