Nezarati MM - Search Results

1

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE. Thompson MD, et al. Among authors: nezarati mm. Am J Med Genet A. 2010 Jul;152A(7):1661-9. doi: 10.1002/ajmg.a.33438. Am J Med Genet A. 2010. PMID: 20578257

2

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).

Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE. Thompson MD, et al. Among authors: nezarati mm. Am J Med Genet A. 2012 Mar;158A(3):553-8. doi: 10.1002/ajmg.a.35202. Epub 2012 Feb 7. Am J Med Genet A. 2012. PMID: 22315194

3

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

Thompson MD, Killoran A, Percy ME, Nezarati M, Cole DE, Hwang PA. Thompson MD, et al. Pediatr Neurol. 2006 Apr;34(4):303-7. doi: 10.1016/j.pediatrneurol.2005.08.020. Pediatr Neurol. 2006. PMID: 16638507

4

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM. Ben-Omran TI, et al. Among authors: nezarati mm. Am J Med Genet A. 2005 Sep 1;137A(3):283-7. doi: 10.1002/ajmg.a.30869. Am J Med Genet A. 2005. PMID: 16088910

5

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. ().

Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ. Chitayat D, et al. Among authors: nezarati mm. Am J Med Genet A. 2018 Sep;176(9):2041-2043. doi: 10.1002/ajmg.a.40360. Epub 2018 Aug 2. Am J Med Genet A. 2018. PMID: 30070761 No abstract available.

6

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.

Su JX, Velsher LS, Juusola J, Nezarati MM. Su JX, et al. Among authors: nezarati mm. Am J Med Genet A. 2021 Jan;185(1):300-303. doi: 10.1002/ajmg.a.61929. Epub 2020 Oct 22. Am J Med Genet A. 2021. PMID: 33091211

7

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM; CAUSES Study; Phillips RS, Chapman G, Dunwoodie SL. Szot JO, et al. Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33942433 Free PMC article.

8

VACTERL manifestations in two generations of a family.

Nezarati MM, McLeod DR. Nezarati MM, et al. Am J Med Genet. 1999 Jan 1;82(1):40-2. Am J Med Genet. 1999. PMID: 9916841

9

Characterizing the oculoauriculofrontonasal syndrome.

Gabbett MT, Robertson SP, Broadbent R, Aftimos S, Sachdev R, Nezarati MM. Gabbett MT, et al. Among authors: nezarati mm. Clin Dysmorphol. 2008 Apr;17(2):79-85. doi: 10.1097/MCD.0b013e3282f449c8. Clin Dysmorphol. 2008. PMID: 18388775

10

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE. Nezarati MM, et al. Am J Med Genet. 2002 Jun 15;110(2):103-8. doi: 10.1002/ajmg.10367. Am J Med Genet. 2002. PMID: 12116246

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