Ferreira CR - Search Results

1

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez AF, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea SH, Cormier-Daire V, Ferreira CR. Ehmke N, et al. Among authors: ferreira cr. Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7. Bone. 2020. PMID: 31923704 Free PMC article.

2

Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency.

Ferreira CR, Cusmano-Ozog K. Ferreira CR, et al. JIMD Rep. 2017;31:45-49. doi: 10.1007/8904_2016_552. Epub 2016 Apr 12. JIMD Rep. 2017. PMID: 27067078 Free PMC article.

3

Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.

Ferreira CR, Devaney JM, Hofherr SE, Pollard LM, Cusmano-Ozog K. Ferreira CR, et al. Am J Med Genet A. 2017 Feb;173(2):501-509. doi: 10.1002/ajmg.a.38023. Epub 2016 Oct 31. Am J Med Genet A. 2017. PMID: 27797444 Free PMC article. Review.

4

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Ferreira CR, Regier DS, Hadley DW, Hart PS, Muenke M. Ferreira CR, et al. Mol Genet Genomic Med. 2017 Jul 16;5(4):307-316. doi: 10.1002/mgg3.318. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717657 Free PMC article.

5

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.

Muriello MJ, Viall S, Bottiglieri T, Cusmano-Ozog K, Ferreira CR. Muriello MJ, et al. Among authors: ferreira cr. Mol Genet Metab Rep. 2017 Jul 15;13:9-12. doi: 10.1016/j.ymgmr.2017.07.004. eCollection 2017 Dec. Mol Genet Metab Rep. 2017. PMID: 28748147 Free PMC article.

6

Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.

Regier DS, Ferreira CR, Hart S, Hadley DW, Muenke M. Regier DS, et al. Among authors: ferreira cr. Mol Genet Genomic Med. 2017 Nov;5(6):621-630. doi: 10.1002/mgg3.343. Mol Genet Genomic Med. 2017. PMID: 29178644 Free PMC article.

7

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center; Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C. Bend R, et al. Among authors: ferreira cr. Eur J Hum Genet. 2020 Jan;28(1):76-87. doi: 10.1038/s41431-019-0487-1. Epub 2019 Aug 8. Eur J Hum Genet. 2020. PMID: 31395947 Free PMC article.

8

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. Ferreira CR, et al. Bone. 2020 Feb;131:115142. doi: 10.1016/j.bone.2019.115142. Epub 2019 Nov 6. Bone. 2020. PMID: 31704340 Free PMC article.

9

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. Elsea SH, et al. Among authors: ferreira cr. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32449975

10

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA. Ferreira CR, et al. Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18. Mol Genet Metab. 2017. PMID: 28041820 Free PMC article.

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