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Results: 1 to 20 of 351

1.

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Fadfel NB, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA.

Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37067. [Epub ahead of print]

PMID:
25899979
2.

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C, Consortium FC, Majewski J, Boycott KM, Graham G, Bromwich M.

Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.36969. [Epub ahead of print]

PMID:
25899773
3.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Abu Khadija K, Zaineddin S, Kamel H, Majewski J, Tropepe V.

J Med Genet. 2015 Apr 14. pii: jmedgenet-2014-102707. doi: 10.1136/jmedgenet-2014-102707. [Epub ahead of print]

PMID:
25873735
4.

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR.

J Med Genet. 2015 Mar 20. pii: jmedgenet-2015-103018. doi: 10.1136/jmedgenet-2015-103018. [Epub ahead of print]

PMID:
25795793
5.

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

Xi Y, Honeywell C, Zhang D, Schwartzentruber J, Beaulieu CL, Tetreault M, Hartley T, Marton J, Vidal SM, Majewski J, Aravind L; Care4Rare Canada Consortium, Gollob M, Boycott KM, Gow RM.

Int J Cardiol. 2015 Apr 15;185:114-6. doi: 10.1016/j.ijcard.2015.03.130. Epub 2015 Mar 11. No abstract available.

PMID:
25791106
6.

Analysis of biosurfaces by neutron reflectometry: from simple to complex interfaces.

Junghans A, Watkins EB, Barker RD, Singh S, Waltman MJ, Smith HL, Pocivavsek L, Majewski J.

Biointerphases. 2015 Mar 16;10(1):019014. doi: 10.1116/1.4914948.

PMID:
25779088
7.

Imaging results of multi-modal ultrasound computerized tomography system designed for breast diagnosis.

Opieliński KJ, Pruchnicki P, Gudra T, Podgórski P, Kurcz J, Kraśnicki T, Sąsiadek M, Majewski J.

Comput Med Imaging Graph. 2015 Feb 21. pii: S0895-6111(15)00045-2. doi: 10.1016/j.compmedimag.2015.02.004. [Epub ahead of print]

PMID:
25759234
8.

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.

Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M.

Cell Rep. 2015 Mar 3. pii: S2211-1247(15)00139-4. doi: 10.1016/j.celrep.2015.02.011. [Epub ahead of print]

9.

Understanding dynamic changes in live cell adhesion with neutron reflectometry.

Junghans A, Waltman MJ, Smith HL, Pocivavsek L, Zebda N, Birukov K, Viapiano M, Majewski J.

Mod Phys Lett B. 2014 Dec 10;28(30). pii: 1430015.

PMID:
25705067
10.

Effects of fluid shear stress on polyelectrolyte multilayers by neutron scattering studies.

Singh S, Junghans A, Watkins E, Kapoor Y, Toomey R, Majewski J.

Langmuir. 2015 Mar 10;31(9):2870-8. doi: 10.1021/acs.langmuir.5b00037. Epub 2015 Feb 25.

PMID:
25689755
11.

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.

Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P.

Am J Hum Genet. 2015 Mar 5;96(3):425-31. doi: 10.1016/j.ajhg.2014.12.027. Epub 2015 Feb 12.

PMID:
25683117
12.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM, Dyment DA.

Clin Genet. 2015 Jan 14. doi: 10.1111/cge.12561. [Epub ahead of print]

PMID:
25589244
13.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK.

Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.

PMID:
25574898
14.

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.

Brue T, Quentien MH, Khetchoumian K, Bensa M, Capo-Chichi JM, Delemer B, Balsalobre A, Nassif C, Papadimitriou DT, Pagnier A, Hasselmann C, Patry L, Schwartzentruber J, Souchon PF, Takayasu S, Enjalbert A, Van Vliet G, Majewski J, Drouin J, Samuels ME.

BMC Med Genet. 2014 Dec 19;15(1):139.

15.

Assays of fibrin network properties altered by VKAs in atrial fibrillation - importance of using an appropriate coagulation trigger.

Ząbczyk M, Blombäck M, Majewski J, Karkowski G, Wallen HN, Undas A, He S.

Thromb Haemost. 2015 Mar 30;113(4):851-61. doi: 10.1160/TH14-07-0591. Epub 2014 Dec 18.

PMID:
25518887
16.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M; University of Washington Centre for Mendelian Genomics; FORGE Canada Consortium, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA.

Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3.

PMID:
25472942
17.

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis.

Torre S, Faucher SP, Fodil N, Bongfen SE, Berghout J, Schwartzentruber JA, Majewski J, Lathrop M, Cooper AM, Vidal SM, Gros P.

Infect Immun. 2015 Feb;83(2):759-68. doi: 10.1128/IAI.02586-14. Epub 2014 Dec 1.

PMID:
25452553
18.

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation.

Kennedy JM, Fodil N, Torre S, Bongfen SE, Olivier JF, Leung V, Langlais D, Meunier C, Berghout J, Langat P, Schwartzentruber J, Majewski J, Lathrop M, Vidal SM, Gros P.

J Exp Med. 2014 Dec 15;211(13):2519-35. doi: 10.1084/jem.20140455. Epub 2014 Nov 17.

PMID:
25403443
19.

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Smith A, Bulman DE, Goldsmith C, Bareke E, Majewski J, Boycott KM, Nikkel SM.

Eur J Hum Genet. 2014 Nov 5. doi: 10.1038/ejhg.2014.236. [Epub ahead of print]

PMID:
25370039
20.

Germline mutations in MAP3K6 are associated with familial gastric cancer.

Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, Greer W, Samuels ME, Orr A, Fernandez CV, Majewski J, Ludman M, Dyack S, Penney LS, McMaster CR, Huntsman D, Bedard K.

PLoS Genet. 2014 Oct 23;10(10):e1004669. doi: 10.1371/journal.pgen.1004669. eCollection 2014 Oct.

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