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Items: 37

1.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Faust U, Felbor U, Feroce I, Fine M, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Pérez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB.

Hum Mutat. 2019 May 27. doi: 10.1002/humu.23818. [Epub ahead of print]

PMID:
31131967
2.

Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.

Du YT, Moore L, Poplawski NK, De Sousa SMC.

Endocrinol Diabetes Metab Case Rep. 2019 May 3;2019. pii: EDM190022. doi: 10.1530/EDM-19-0022. [Epub ahead of print]

3.

Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).

Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman AC, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.

J Pathol Clin Res. 2019 Apr 30. doi: 10.1002/cjp2.133. [Epub ahead of print]

4.

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS.

Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28. No abstract available.

5.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK.

J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171.

PMID:
30517737
6.

Medicare-funded cancer genetic tests: a note of caution.

Kirk J, Barlow-Stewart KK, Poplawski NK, Gleeson M, Tucker K, Friedlander M.

Med J Aust. 2018 Aug 3;209(5):193-196. No abstract available.

PMID:
30157409
7.

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

Pathmanaban ON, Sadler KV, Kamaly-Asl ID, King AT, Rutherford SA, Hammerbeck-Ward C, McCabe MG, Kilday JP, Beetz C, Poplawski NK, Evans DG, Smith MJ.

JAMA Neurol. 2017 Sep 1;74(9):1123-1129. doi: 10.1001/jamaneurol.2017.1406.

8.

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB.

Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. Epub 2016 Mar 23.

9.

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.

Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS.

Clin Endocrinol (Oxf). 2016 Sep;85(3):495-7. doi: 10.1111/cen.13104. Epub 2016 Jun 10. No abstract available.

PMID:
27177819
10.

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers.

Madorsky-Feldman D, Sklair-Levy M, Perri T, Laitman Y, Paluch-Shimon S, Schmutzler R, Rhiem K, Lester J, Karlan BY, Singer CF, Van Maerken T, Claes K, Brunet J, Izquierdo A, Teulé A, Lee JW, Kim SW, Arun B, Jakubowska A, Lubinski J, Tucker K, Poplawski NK, Varesco L, Bonelli LA, Buys SS, Mitchell G, Tischkowitz M, Gerdes AM, Seynaeve C, Robson M, Kwong A, Tung N, Tessa N, Domchek SM, Godwin AK, Rantala J, Arver B, Friedman E.

Breast Cancer Res Treat. 2016 Jun;157(2):319-327. doi: 10.1007/s10549-016-3805-0. Epub 2016 Apr 27.

11.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G.

Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14.

12.

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Rosty C, Clendenning M, Walsh MD, Eriksen SV, Southey MC, Winship IM, Macrae FA, Boussioutas A, Poplawski NK, Parry S, Arnold J, Young JP, Casey G, Haile RW, Gallinger S, Le Marchand L, Newcomb PA, Potter JD, DeRycke M, Lindor NM, Thibodeau SN, Baron JA, Win AK, Hopper JL, Jenkins MA, Buchanan DD; Colon Cancer Family Registry Cohort.

BMJ Open. 2016 Feb 19;6(2):e010293. doi: 10.1136/bmjopen-2015-010293.

13.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS.

Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28.

14.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
15.

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation.

Hansford JR, Pal M, Poplawski N, Haan E, Boog B, Ferrante A, Davis J, Niemela JE, Rao VK, Suppiah R.

Haematologica. 2013 Apr;98(4):e38-9. doi: 10.3324/haematol.2012.070524. Epub 2012 Sep 14. No abstract available.

16.

A new model of care for familial hypercholesterolaemia: what is the role of cardiology?

Watts GF, Sullivan DR, van Bockxmeer FM, Poplawski N, Hamilton-Craig I, Clifton PM, O'Brien RC, Bishop W, George PM, Semsarian C, Tonkin A; Familial Hypercholesterolaemia Australasia Network.

Heart Lung Circ. 2012 Sep;21(9):543-50. Epub 2012 May 25. Review.

PMID:
22633397
17.

A model of care for familial hypercholesterolaemia: key role for clinical biochemistry.

Watts GF, Sullivan DR, van Bockxmeer FM, Poplawski N, Hamilton-Craig I, Clifton PM, O'Brien RC, George PM, Burnett JR.

Clin Biochem Rev. 2012 Feb;33(1):25-31.

18.

Familial hypercholesterolaemia: a model of care for Australasia.

Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, Clifton PM, O'Brien R, Bishop W, George P, Barter PJ, Bates T, Burnett JR, Coakley J, Davidson P, Emery J, Martin A, Farid W, Freeman L, Geelhoed E, Juniper A, Kidd A, Kostner K, Krass I, Livingston M, Maxwell S, O'Leary P, Owaimrin A, Redgrave TG, Reid N, Southwell L, Suthers G, Tonkin A, Towler S, Trent R; Familial Hypercholesterolaemia Australasia Network Consensus Group (Australian Atherosclerosis Society).

Atheroscler Suppl. 2011 Oct;12(2):221-63. doi: 10.1016/j.atherosclerosissup.2011.06.001. Epub 2011 Sep 13.

PMID:
21917530
19.

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS.

Eur J Hum Genet. 2011 Jan;19(1):56-63. doi: 10.1038/ejhg.2010.134. Epub 2010 Aug 18.

20.

Front instabilities and invasiveness of simulated 3D avascular tumors.

Poplawski NJ, Shirinifard A, Agero U, Gens JS, Swat M, Glazier JA.

PLoS One. 2010 May 26;5(5):e10641. doi: 10.1371/journal.pone.0010641.

21.

Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.

Muller KR, Padbury R, Jeffrey GP, Poplawski NK, Thompson P, Tonkin A, Harley HA.

Liver Transpl. 2010 Apr;16(4):470-3. doi: 10.1002/lt.22019.

22.

3D multi-cell simulation of tumor growth and angiogenesis.

Shirinifard A, Gens JS, Zaitlen BL, Popławski NJ, Swat M, Glazier JA.

PLoS One. 2009 Oct 16;4(10):e7190. doi: 10.1371/journal.pone.0007190.

23.

Front instabilities and invasiveness of simulated avascular tumors.

Popławski NJ, Agero U, Gens JS, Swat M, Glazier JA, Anderson AR.

Bull Math Biol. 2009 Jul;71(5):1189-227. doi: 10.1007/s11538-009-9399-5. Epub 2009 Feb 21.

24.
25.

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Maegawa GH, Poplawski NK, Andresen BS, Olpin SE, Nie G, Clarke JT, Teshima I.

Am J Med Genet A. 2008 Jun 15;146A(12):1581-6. doi: 10.1002/ajmg.a.32255. Review.

PMID:
18478588
26.
27.

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N.

Am J Med Genet A. 2005 Jul 15;136(2):194-7.

PMID:
15945070
28.

Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population.

Nicholls CM, Nelson PV, Poplawski NK, Chin SJ, Fong BA, Solly PB, Fietz MJ, Fletcher JM.

Prenat Diagn. 2003 Dec 15;23(12):1023-5. No abstract available.

PMID:
14663844
29.

Investigating intellectual disability: a genetic perspective.

Poplawski NK.

J Paediatr Child Health. 2003 Sep-Oct;39(7):492-506. Review.

PMID:
12969201
30.

Urine amino and organic acids analysis in developmental delay or intellectual disability.

Poplawski NK, Harrison JR, Norton W, Wiltshire E, Fletcher JM.

J Paediatr Child Health. 2002 Oct;38(5):475-80.

PMID:
12354264
31.

Passive exposure to tobacco smoke and bacterial meningitis in children.

Iles K, Poplawski NK, Couper RT.

J Paediatr Child Health. 2001 Aug;37(4):388-91.

PMID:
11532060
32.

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C.

Eur Respir J. 2001 Jun;17(6):1195-200.

33.

Ornithine carbamoyltransferase deficiency presenting with chorea in a female.

Wiltshire EJ, Poplawski NK, Harbord MG, Harrison RJ, Fletcher JM.

J Inherit Metab Dis. 2000 Dec;23(8):843-4. No abstract available.

PMID:
11196111
34.

Treatment of late-onset nonketotic hyperglycinaemia: effectiveness of imipramine and benzoate.

Wiltshire EJ, Poplawski NK, Harrison JR, Fletcher JM.

J Inherit Metab Dis. 2000 Feb;23(1):15-21.

PMID:
10682304
35.

Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card.

Poplawski NK, Ranieri E, Harrison JR, Fletcher JM.

J Pediatr. 1999 Jun;134(6):764-6.

PMID:
10356148
36.

Ethics and embryos.

Poplawski N, Gillett G.

J Med Ethics. 1991 Jun;17(2):62-9.

37.

An ethical issue for reproductive technologies.

Poplawski NK.

Asia Oceania J Obstet Gynaecol. 1990 Sep;16(3):291-6.

PMID:
2088254

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