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Items: 1 to 20 of 114

1.

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
2.

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.

PMID:
29052317
3.

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. 2017 Oct 16. doi: 10.1002/humu.23345. [Epub ahead of print]

PMID:
29044765
4.

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
5.

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.

PMID:
28748642
6.

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.

7.

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.

8.

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.

9.

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.

10.

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
11.

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.

PMID:
28592560
13.

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.

PMID:
28336451
14.

Cover Image, Volume 173A, Number 4, April 2017.

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):i. doi: 10.1002/ajmg.a.38224.

PMID:
28328119
15.

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.

PMID:
28328118
16.

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.

17.

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.

PMID:
28041820
18.

Matrix-assisted laser desorption/ionization imaging mass spectrometry for the spatial location of feline oviductal proteins.

Apparicio M, Santos VG, Rocha D, Ferreira CR, Macente BI, Magalhães GM, Alves AE, Motheo TF, Padilha-Nakaghi LC, Pires-Buttler EA, Luvoni GC, Eberlin MN, Vicente W.

Reprod Domest Anim. 2017 Apr;52 Suppl 2:88-92. doi: 10.1111/rda.12842. Epub 2016 Nov 3.

PMID:
27807892
19.

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.

Am J Med Genet A. 2017 Feb;173(2):501-509. doi: 10.1002/ajmg.a.38023. Epub 2016 Oct 31. Review.

PMID:
27797444
20.

Functional abolition of carotid body activity restores insulin action and glucose homeostasis in rats: key roles for visceral adipose tissue and the liver.

Sacramento JF, Ribeiro MJ, Rodrigues T, Olea E, Melo BF, Guarino MP, Fonseca-Pinto R, Ferreira CR, Coelho J, Obeso A, Seiça R, Matafome P, Conde SV.

Diabetologia. 2017 Jan;60(1):158-168. Epub 2016 Oct 16.

PMID:
27744526

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