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Items: 1 to 50 of 186

1.

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.

Boyce AM, Gafni RI, Ferreira CR.

Curr Osteoporos Rep. 2020 Mar 14. doi: 10.1007/s11914-020-00577-4. [Epub ahead of print] Review.

PMID:
32172442
2.

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A.

Clin Genet. 2020 Mar 10. doi: 10.1111/cge.13735. [Epub ahead of print]

PMID:
32157688
3.

A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND).

Warmerdam HAG, Termeulen-Ferreira EA, Tseng LA, Lee JY, van Eeghen AM, Ferreira CR, van Karnebeek CDM.

Front Neurol. 2020 Feb 18;10:1369. doi: 10.3389/fneur.2019.01369. eCollection 2019.

4.

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.

Horvath GA, Stowe RM, Ferreira CR, Blau N.

Mol Genet Metab. 2020 Feb 21. pii: S1096-7192(20)30057-3. doi: 10.1016/j.ymgme.2020.02.007. [Epub ahead of print]

PMID:
32122747
5.

Characterization and regulation of extracellular vesicles in the lumen of the ovine uterus†.

O'Neil EV, Burns GW, Ferreira CR, Spencer TE.

Biol Reprod. 2020 Feb 14. pii: ioaa019. doi: 10.1093/biolre/ioaa019. [Epub ahead of print]

PMID:
32055841
6.

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K.

Mol Genet Genomic Med. 2020 Feb 12:e1167. doi: 10.1002/mgg3.1167. [Epub ahead of print]

7.

Mammalian ovarian lipid distributions by desorption electrospray ionization-mass spectrometry (DESI-MS) imaging.

Cordeiro FB, Jarmusch AK, León M, Ferreira CR, Pirro V, Eberlin LS, Hallett J, Miglino MA, Cooks RG.

Anal Bioanal Chem. 2020 Feb;412(6):1251-1262. doi: 10.1007/s00216-019-02352-6. Epub 2020 Jan 17.

PMID:
31953714
8.

Defining the clinical phenotype of Saul-Wilson syndrome.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0737-1. [Epub ahead of print]

PMID:
31949312
9.

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.

Bone. 2020 Apr;133:115219. doi: 10.1016/j.bone.2019.115219. Epub 2020 Jan 7.

PMID:
31923704
10.

Genetic Subtypes of Systemic Anaplastic Large Cell Lymphoma Show Distinct Differences in PD-L1 Expression and Regulatory and Cytotoxic T Cells in the Tumor Microenvironment.

Ferreira CR, Manohar V, Zhao S, Bangs CD, Cherry A, Azevedo RS, Lage LAPC, Pereira J, Zerbini MCN, Gratzinger D, Natkunam Y.

Appl Immunohistochem Mol Morphol. 2020 Jan;28(1):10-16. doi: 10.1097/PAI.0000000000000798.

PMID:
31809310
11.

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.

Bone. 2020 Feb;131:115142. doi: 10.1016/j.bone.2019.115142. Epub 2019 Nov 6.

PMID:
31704340
12.

Mevalonic aciduria: Does stem cell transplant fully cure disease?

Szymanski AM, Dávila Saldaña B, Ferreira CR, Loechelt B, Jung L.

Pediatr Transplant. 2020 Feb;24(1):e13604. doi: 10.1111/petr.13604. Epub 2019 Oct 25.

PMID:
31651069
13.

Clinicopathologic and microenvironmental analysis of primary cutaneous CD30-positive lymphoproliferative disorders: a 26 year experience from an academic medical center in Brazil.

Ferreira CR, Zhao S, Sanches JA, Miyashiro D, Cury-Martins J, Azevedo RS, Zerbini MCN, Natkunam Y, Gratzinger D.

Diagn Pathol. 2019 Oct 22;14(1):115. doi: 10.1186/s13000-019-0900-7.

14.

High Throughput Experimentation Using DESI-MS to Guide Continuous-Flow Synthesis.

Loren BP, Ewan HS, Avramova L, Ferreira CR, Sobreira TJP, Yammine K, Liao H, Cooks RG, Thompson DH.

Sci Rep. 2019 Oct 14;9(1):14745. doi: 10.1038/s41598-019-50638-7.

15.

Ambient Lipidomic Analysis of Single Mammalian Oocytes and Preimplantation Embryos Using Desorption Electrospray Ionization (DESI) Mass Spectrometry.

Ferreira CR, Pirro V, Jarmusch AK, Alfaro CM, Cooks RG.

Methods Mol Biol. 2020;2064:159-179. doi: 10.1007/978-1-4939-9831-9_13.

PMID:
31565774
16.

Lipidome profiles of postnatal day 2 vaginal swabs reflect fat composition of gilt's postnatal diet.

Harlow K, Ferreira CR, Sobreira TJP, Casey T, Stewart K.

PLoS One. 2019 Sep 26;14(9):e0215186. doi: 10.1371/journal.pone.0215186. eCollection 2019.

17.

Influence of cAMP modulator supplementation of in vitro culture medium on Bos taurus indicus embryos.

Costa CB, Lunardelli PA, Fontes PK, Sudano MJ, Gouveia Nogueira MF, Alfieri AA, Ferreira CR, de Lima CB, Marinho LSR, Seneda MM.

Theriogenology. 2020 Jan 1;141:134-141. doi: 10.1016/j.theriogenology.2019.09.007. Epub 2019 Sep 11.

PMID:
31541782
18.

Structural and Electronic Properties of Iron-Doped Sodium Montmorillonite Clays: A First-Principles DFT Study.

Ferreira CR, Pulcinelli SH, Scolfaro L, Borges PD.

ACS Omega. 2019 Aug 27;4(11):14369-14377. doi: 10.1021/acsomega.9b00685. eCollection 2019 Sep 10.

19.

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.

Li HJ, Groden C, Hoenig MP, Ray EC, Ferreira CR, Gahl W, Novacic D.

BMC Nephrol. 2019 Sep 9;20(1):353. doi: 10.1186/s12882-019-1533-5.

20.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Pode-Shakked B, Heimer G, Vilboux T, Marek-Yagel D, Ben-Zeev B, Davids M, Ferreira CR, Philosoph AM, Veber A, Pode-Shakked N, Kenet G, Soudack M, Hoffmann C, Vernitsky H, Safaniev M, Lodzki M, Lahad A, Shouval DS, Levinkopf D, Weiss B, Barg AA, Daka A, Amariglio N, Malicdan MCV, Gahl WA, Anikster Y.

Mol Genet Metab. 2019 Sep - Oct;128(1-2):151-161. doi: 10.1016/j.ymgme.2019.08.003. Epub 2019 Aug 14.

PMID:
31445883
21.

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Staretz-Chacham O, Shukrun R, Barel O, Pode-Shakked B, Pleniceanu O, Anikster Y, Shalva N, Ferreira CR, Ben-Haim Kadosh A, Richardson J, Mane SM, Hildebrandt F, Vivante A.

Am J Med Genet A. 2019 Oct;179(10):2112-2118. doi: 10.1002/ajmg.a.61334. Epub 2019 Aug 24.

22.

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB.

J Inherit Metab Dis. 2020 Mar;43(2):223-233. doi: 10.1002/jimd.12162. Epub 2019 Nov 8. Review.

PMID:
31420886
23.

Multiple Reaction Monitoring Profiling (MRM-Profiling) of Lipids To Distinguish Strain-Level Differences in Microbial Resistance in Escherichia coli.

Xie Z, Gonzalez LE, Ferreira CR, Vorsilak A, Frabutt D, Sobreira TJP, Pugia M, Cooks RG.

Anal Chem. 2019 Sep 3;91(17):11349-11354. doi: 10.1021/acs.analchem.9b02465. Epub 2019 Aug 20.

PMID:
31398004
24.

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.

Eur J Hum Genet. 2020 Jan;28(1):76-87. doi: 10.1038/s41431-019-0487-1. Epub 2019 Aug 8.

25.

Inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM.

Handb Clin Neurol. 2019;162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9. Review.

PMID:
31324325
26.

Histologic analysis and lipid profiling reveal reproductive age-associated changes in peri-ovarian adipose tissue.

Dipali SS, Ferreira CR, Zhou LT, Pritchard MT, Duncan FE.

Reprod Biol Endocrinol. 2019 Jun 12;17(1):46. doi: 10.1186/s12958-019-0487-6.

27.

An update on the aspects of Zika virus infection on male reproductive system.

Borges ED, Vireque AA, Berteli TS, Ferreira CR, Silva AS, Navarro PA.

J Assist Reprod Genet. 2019 Jul;36(7):1339-1349. doi: 10.1007/s10815-019-01493-y. Epub 2019 May 30. Review.

PMID:
31147867
28.

Metabolites and Lipids Associated with Fetal Swine Anatomy via Desorption Electrospray Ionization - Mass Spectrometry Imaging.

León M, Ferreira CR, Eberlin LS, Jarmusch AK, Pirro V, Rodrigues ACB, Favaron PO, Miglino MA, Cooks RG.

Sci Rep. 2019 May 10;9(1):7247. doi: 10.1038/s41598-019-43698-2.

29.

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

Ferreira CR, Cassiman D, Blau N.

Mol Genet Metab. 2019 Jun;127(2):117-121. doi: 10.1016/j.ymgme.2019.04.002. Epub 2019 Apr 12. Review.

PMID:
31005404
30.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MRDS, Simons C, Ishikawa K, Ikegawa S.

Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

31.

TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR.

Am J Med Genet A. 2019 Jul;179(7):1293-1298. doi: 10.1002/ajmg.a.61138. Epub 2019 Apr 4.

PMID:
30950220
32.

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Ferreira CR, Hoffmann GF, Blau N.

Mol Genet Metab. 2019 May;127(1):28-30. doi: 10.1016/j.ymgme.2019.03.007. Epub 2019 Mar 26. Review.

PMID:
30928149
33.

The burden of rare diseases.

Ferreira CR.

Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18. Review.

PMID:
30883013
34.

Corrigendum to "The human phenotype of ornithine decarboxylase superactivity: a new syndrome".

Ferreira CR.

Am J Med Genet A. 2019 Apr;179(4):747-748. doi: 10.1002/ajmg.a.61064. Epub 2019 Feb 15. No abstract available.

PMID:
30864283
35.

Progressive multifocal leukoencephalopathy: a challenging diagnosis established at autopsy.

Lopes CCB, Crivillari M, Prado JCM, Ferreira CR, Dos Santos PJ, Takayasu V, Laborda LS.

Autops Case Rep. 2019 Jan 14;9(1):e2018063. doi: 10.4322/acr.2018.063. eCollection 2019 Jan-Mar.

36.

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR.

Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.

37.

Design of an industrial solid waste processing line to produce refuse-derived fuel.

Infiesta LR, Ferreira CRN, Trovó AG, Borges VL, Carvalho SR.

J Environ Manage. 2019 Apr 15;236:715-719. doi: 10.1016/j.jenvman.2019.02.017. Epub 2019 Feb 15.

PMID:
30772728
38.

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR.

Pediatr Neurol. 2019 May;94:64-69. doi: 10.1016/j.pediatrneurol.2018.12.009. Epub 2018 Dec 24.

PMID:
30770273
39.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
40.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.

Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. No abstract available.

41.

Indoor Air Quality Assessment Using a CO2 Monitoring System Based on Internet of Things.

Marques G, Ferreira CR, Pitarma R.

J Med Syst. 2019 Feb 7;43(3):67. doi: 10.1007/s10916-019-1184-x.

PMID:
30729368
42.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

43.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.

Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):357.

44.

DDX58 and Classic Singleton-Merten Syndrome.

Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA.

J Clin Immunol. 2019 Jan;39(1):75-80. doi: 10.1007/s10875-018-0572-1. Epub 2018 Dec 20.

45.

The human phenotype of ornithine decarboxylase superactivity: A new syndrome.

Ferreira CR.

Am J Med Genet A. 2018 Dec;176(12):2545-2547. doi: 10.1002/ajmg.a.13. Epub 2018 Dec 20. No abstract available. Erratum in: Am J Med Genet A. 2019 Apr;179(4):747-748.

PMID:
30569558
46.

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

van Karnebeek CDM, Sayson B, Lee JJY, Tseng LA, Blau N, Horvath GA, Ferreira CR.

Front Neurol. 2018 Dec 3;9:1016. doi: 10.3389/fneur.2018.01016. eCollection 2018. Review.

47.

Comprehensive lipid profiling of early stage oocytes and embryos by MRM profiling.

de Lima CB, Ferreira CR, Milazzotto MP, Sobreira TJP, Vireque AA, Cooks RG.

J Mass Spectrom. 2018 Dec;53(12):1247-1252. doi: 10.1002/jms.4301. No abstract available.

PMID:
30325087
48.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

49.

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Valentin MN, Solomon BD, Richard G, Ferreira CR, Kirkorian AY.

Am J Med Genet A. 2018 Nov;176(11):2451-2455. doi: 10.1002/ajmg.a.40485. Epub 2018 Oct 5.

PMID:
30289605
50.

Multiple reaction monitoring (MRM)-profiling with biomarker identification by LC-QTOF to characterize coronary artery disease.

Yannell KE, Ferreira CR, Tichy SE, Cooks RG.

Analyst. 2018 Oct 8;143(20):5014-5022. doi: 10.1039/c8an01017j.

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