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Items: 1 to 50 of 148

1.

The burden of rare diseases.

Ferreira CR.

Am J Med Genet A. 2019 Mar 18. doi: 10.1002/ajmg.a.61124. [Epub ahead of print] Review.

PMID:
30883013
2.

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
3.

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.

4.

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.

5.

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
6.

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. 2018 Dec 24. pii: S0887-8994(18)31157-3. doi: 10.1016/j.pediatrneurol.2018.12.009. [Epub ahead of print]

PMID:
30770273
7.

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. Review.

PMID:
30740725
8.

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.

9.

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
10.

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.

PMID:
30614194
11.

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.

PMID:
30595372
12.

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.

13.

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
14.

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.

15.

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
16.

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.

PMID:
30290151
17.

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
18.

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.

PMID:
30226503
19.

Multiple Reaction Monitoring Profiling to Assess Compliance with an Almond Consumption Intervention.

Dhillon J, Ferreira CR, Sobreira TJP, Mattes RD.

Curr Dev Nutr. 2017 Sep 6;1(9):e001545. doi: 10.3945/cdn.117.001545. eCollection 2017 Sep.

20.

Water Absorption and Physicochemical Characterization of Novel Zeolite-PMAA-co-PAAm Nanocomposites.

Tanaka FN, Ferreira CR Jr, de Moura MR, Aouada FA.

J Nanosci Nanotechnol. 2018 Oct 1;18(10):7286-7295. doi: 10.1166/jnn.2018.15515.

PMID:
29954575
21.

FOXP3-positive T-cell lymphomas in non-HTLV1 carriers include ALK-negative anaplastic large cell lymphoma: expanding the spectrum of T-cell lymphomas with regulatory phenotype.

Ferreira CR, Zhao S, Sahoo MK, Pinsky B, Weber J, Lage LAPC, Pereira J, Zerbini MCN, Natkunam Y.

Hum Pathol. 2018 Oct;80:138-144. doi: 10.1016/j.humpath.2018.06.001. Epub 2018 Jun 10.

PMID:
29898383
22.

A proposed nosology of inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N.

Genet Med. 2019 Jan;21(1):102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8.

23.

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ.

Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7.

PMID:
29789193
24.
25.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

PMID:
29681090
26.

High throughput reaction screening using desorption electrospray ionization mass spectrometry.

Wleklinski M, Loren BP, Ferreira CR, Jaman Z, Avramova L, Sobreira TJP, Thompson DH, Cooks RG.

Chem Sci. 2018 Jan 4;9(6):1647-1653. doi: 10.1039/c7sc04606e. eCollection 2018 Feb 14.

27.

Lipid profile of bovine blastocysts exposed to insulin during in vitro oocyte maturation.

Laskowski D, Andersson G, Humblot P, Sirard MA, Sjunnesson Y, Ferreira CR, Pirro V, Båge R.

Reprod Fertil Dev. 2018 Apr 16. doi: 10.1071/RD17248. [Epub ahead of print]

PMID:
29655403
28.

Recognizable phenotypes in CDG.

Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E.

J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13.

PMID:
29654385
29.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
30.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

31.

Disorders of metal metabolism.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015. Review.

32.

Hypercementosis Associated with ENPP1 Mutations and GACI.

Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL.

J Dent Res. 2018 Apr;97(4):432-441. doi: 10.1177/0022034517744773. Epub 2017 Dec 15.

PMID:
29244957
33.

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.

Mol Genet Genomic Med. 2017 Nov;5(6):621-630. doi: 10.1002/mgg3.343.

34.

Lysosomal storage diseases.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Review.

35.

Cover Image, Volume 173A, Number 12, December 2017.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548.

PMID:
29136352
36.

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20.

37.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y.

Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.

38.

Cover Image, Volume 173A, Number 9, September 2017.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):i. doi: 10.1002/ajmg.a.38408.

PMID:
28816424
39.

Noonan syndrome in diverse populations.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27.

40.

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

Muriello MJ, Viall S, Bottiglieri T, Cusmano-Ozog K, Ferreira CR.

Mol Genet Metab Rep. 2017 Jul 15;13:9-12. doi: 10.1016/j.ymgmr.2017.07.004. eCollection 2017 Dec.

41.

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.

Mol Genet Genomic Med. 2017 Jul 16;5(4):307-316. doi: 10.1002/mgg3.318. eCollection 2017 Jul.

42.

Dataset on lipid profile of bovine oocytes exposed to Lα-phosphatidylcholine during in vitro maturation investigated by MALDI mass spectrometry and gas chromatography-flame ionization detection.

Vireque AA, Ferreira CR, Hatanaka RR, Tata A, Belaz KRA, Santos VG, Eberlin MN, Silva de Sá MF, Ferriani RA, Rosa E Silva ACJS.

Data Brief. 2017 Jun 17;13:480-486. doi: 10.1016/j.dib.2017.06.026. eCollection 2017 Aug.

43.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

44.

Multiple reaction monitoring (MRM)-profiling for biomarker discovery applied to human polycystic ovarian syndrome.

Cordeiro FB, Ferreira CR, Sobreira TJP, Yannell KE, Jarmusch AK, Cedenho AP, Lo Turco EG, Cooks RG.

Rapid Commun Mass Spectrom. 2017 Sep 15;31(17):1462-1470. doi: 10.1002/rcm.7927.

PMID:
28656689
45.

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC.

Sci Transl Med. 2017 Jun 7;9(393). pii: eaal1669. doi: 10.1126/scitranslmed.aal1669.

47.

Effect of soybean phosphatidylcholine on lipid profile of bovine oocytes matured in vitro.

Pitangui-Molina CP, Vireque AA, Tata A, Belaz KR, Santos VG, Ferreira CR, Eberlin MN, Silva-de-Sá MF, Ferriani RA, Rosa-E-Silva AC.

Chem Phys Lipids. 2017 Apr;204:76-84. doi: 10.1016/j.chemphyslip.2017.03.003. Epub 2017 Mar 21.

48.

22q11.2 deletion syndrome in diverse populations.

Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M.

Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199.

49.

Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data.

Ferreira CR.

Mol Genet Metab Rep. 2017 Jan 16;10:81-82. doi: 10.1016/j.ymgmr.2016.12.009. eCollection 2017 Mar. No abstract available.

50.

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.

Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.

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