Friez MJ - Search Results

1

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. Fang X, et al. Among authors: friez mj. Mol Genet Genomic Med. 2022 May;10(5):e1917. doi: 10.1002/mgg3.1917. Epub 2022 Mar 23. Mol Genet Genomic Med. 2022. PMID: 35318820 Free PMC article.

2

Early progressive encephalopathy in boys and MECP2 mutations.

Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Kankirawatana P, et al. Neurology. 2006 Jul 11;67(1):164-6. doi: 10.1212/01.wnl.0000223318.28938.45. Neurology. 2006. PMID: 16832102

3

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Among authors: friez mj. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.

4

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. Sajan SA, et al. Among authors: friez mj. Genet Med. 2017 Jan;19(1):13-19. doi: 10.1038/gim.2016.42. Epub 2016 May 12. Genet Med. 2017. PMID: 27171548 Free PMC article.

5

Importance of genetic testing in global health during the evaluation of familial microcephaly.

Molinero I, Broman-Fulks J, Lyons MJ, Matheus MG, Chaubey A, DuPont BR, Friez MJ, Skinner SA, Holden KR. Molinero I, et al. Among authors: friez mj. Clin Case Rep. 2016 Aug 26;4(10):968-971. doi: 10.1002/ccr3.669. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761248 Free PMC article.

6

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.

Moss T, May M, Flanagan-Steet H, Caylor R, Jiang YH, McDonald M, Friez M, McConkie-Rosell A, Steet R. Moss T, et al. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a006081. doi: 10.1101/mcs.a006081. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 34117073 Free PMC article.

7

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS. Butler KM, et al. Among authors: friez mj. Clin Dysmorphol. 2021 Oct 1;30(4):167-172. doi: 10.1097/MCD.0000000000000387. Clin Dysmorphol. 2021. PMID: 34456244 Review.

8

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S. McKnight D, et al. Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2. Hum Mutat. 2022. PMID: 34837432 Free PMC article.

9

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.

Cooley Coleman JA, Fee T, Bend R, Louie R, Annese F, Stallworth J, Worthington J, Buchanan CB, Everman DB, Skinner S, Friez MJ, Jones JR, Spellicy CJ. Cooley Coleman JA, et al. Among authors: friez mj. Am J Med Genet A. 2022 Oct;188(10):2988-2998. doi: 10.1002/ajmg.a.62913. Epub 2022 Aug 4. Am J Med Genet A. 2022. PMID: 35924478

10

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Friez MJ, et al. Hum Genet. 2000 Jan;106(1):36-9. doi: 10.1007/s004390051006. Hum Genet. 2000. PMID: 10982179

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