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Items: 48

1.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N, Teeninga N, Nauta J, Shalaby M, Eldesoky S, Kari JA, Thalgahagoda S, Ranawaka R, Abeyagunawardena A, Adeyemo A, Kristiansen M, Gbadegesin R, Webb NJ, Gale DP, Stanescu HC, Kleta R, Bockenhauer D.

J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054. Epub 2019 Jul 1.

PMID:
31263063
2.

Noncoding deletions reveal a gene that is critical for intestinal function.

Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA.

Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19.

PMID:
31217582
3.

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.

4.

OVAS: an open-source variant analysis suite with inheritance modelling.

Mozere M, Tekman M, Kari J, Bockenhauer D, Kleta R, Stanescu H.

BMC Bioinformatics. 2018 Feb 8;19(1):46. doi: 10.1186/s12859-018-2030-8.

5.

Genetics of membranous nephropathy.

Gupta S, Köttgen A, Hoxha E, Brenchley P, Bockenhauer D, Stanescu HC, Kleta R.

Nephrol Dial Transplant. 2018 Sep 1;33(9):1493-1502. doi: 10.1093/ndt/gfx296. Review.

6.

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.

Tekman M, Medlar A, Mozere M, Kleta R, Stanescu H.

Bioinformatics. 2017 Dec 15;33(24):3871-3877. doi: 10.1093/bioinformatics/btx510.

PMID:
28961780
7.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F.

J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5.

8.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3.

9.

Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.

Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Bras J, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, Hardy J, Viitanen M, Myllykangas L, Guerreiro R.

Brain. 2017 May 1;140(5):e29. doi: 10.1093/brain/awx062. No abstract available.

10.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, Yu X, Barratt J.

J Am Soc Nephrol. 2017 Jul;28(7):2158-2166. doi: 10.1681/ASN.2016091043. Epub 2017 Feb 16.

11.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

Le Quesne Stabej P, James C, Ocaka L, Tekman M, Grunewald S, Clement E, Stanescu HC, Kleta R, Morrogh D, Calder A, Williams HJ, Bitner-Glindzicz M.

Orphanet J Rare Dis. 2017 Feb 7;12(1):24. doi: 10.1186/s13023-017-0582-8.

12.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA.

J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19.

13.

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Abdelhadi O, Iancu D, Tekman M, Stanescu H, Bockenhauer D, Kleta R.

Mol Genet Genomic Med. 2016 Jun 7;4(5):521-6. doi: 10.1002/mgg3.227. eCollection 2016 Sep.

14.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

Bacchelli C, Moretti FA, Carmo M, Adams S, Stanescu HC, Pearce K, Madkaikar M, Gilmour KC, Nicholas AK, Woods CG, Kleta R, Beales PL, Qasim W, Gaspar HB.

J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5. doi: 10.1016/j.jaci.2016.05.036. Epub 2016 Jul 15.

PMID:
27522155
15.

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.

Abdelhadi O, Iancu D, Stanescu H, Kleta R, Bockenhauer D.

Rare Dis. 2016 Jun 1;4(1):e1195043. doi: 10.1080/21675511.2016.1195043. eCollection 2016. Review.

16.

Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.

Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, Bockenhauer D, Walz G, Powis SH, Kielstein JT, Brenchley P; GCKD Investigators, Eckardt KU, Kronenberg F, Kleta R, Köttgen A.

Nephrol Dial Transplant. 2017 Feb 1;32(2):325-332. doi: 10.1093/ndt/gfw001. Epub 2016 Feb 4.

17.

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.

Rowczenio DM, Iancu DS, Trojer H, Gilbertson JA, Gillmore JD, Wechalekar AD, Tekman M, Stanescu HC, Kleta R, Lane T, Hawkins PN, Lachmann HJ.

Rheumatology (Oxford). 2017 Feb;56(2):209-213. doi: 10.1093/rheumatology/kew058. Epub 2016 May 5.

PMID:
27150194
18.

The use of whole-exome sequencing to disentangle complex phenotypes.

Williams HJ, Hurst JR, Ocaka L, James C, Pao C, Chanudet E, Lescai F, Stanescu HC, Kleta R; GOSgene, Rosser E, Bacchelli C, Beales P.

Eur J Hum Genet. 2016 Feb;24(2):298-301. doi: 10.1038/ejhg.2015.121. Epub 2015 Jun 10.

19.

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene.

Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10.

20.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW.

Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.

21.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

22.

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH.

Am J Med Genet A. 2014 Jul;164A(7):1777-83. doi: 10.1002/ajmg.a.36506. Epub 2014 Apr 3.

PMID:
24700531
23.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R.

N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.

24.

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings.

Zdebik AA, Mahmood F, Stanescu HC, Kleta R, Bockenhauer D, Russell C.

PLoS One. 2013 Nov 14;8(11):e79765. doi: 10.1371/journal.pone.0079765. eCollection 2013.

25.

Consanguinity in Saudi Arabia: a unique opportunity for pediatric kidney research.

Kari JA, Bockenhauer D, Stanescu H, Gari M, Kleta R, Singh AK.

Am J Kidney Dis. 2014 Feb;63(2):304-10. doi: 10.1053/j.ajkd.2013.08.033. Epub 2013 Nov 13. Review.

PMID:
24239020
26.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H.

Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.

27.

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.

Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C.

Dis Model Mech. 2013 May;6(3):652-60. doi: 10.1242/dmm.009480. Epub 2013 Feb 14.

28.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R.

Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23.

29.

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy.

Coenen MJ, Hofstra JM, Debiec H, Stanescu HC, Medlar AJ, Stengel B, Boland-Augé A, Groothuismink JM, Bockenhauer D, Powis SH, Mathieson PW, Brenchley PE, Kleta R, Wetzels JF, Ronco P.

J Am Soc Nephrol. 2013 Mar;24(4):677-83. doi: 10.1681/ASN.2012070730. Epub 2013 Feb 21.

30.

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H.

Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19.

31.

SwiftLink: parallel MCMC linkage analysis using multicore CPU and GPU.

Medlar A, Głowacka D, Stanescu H, Bryson K, Kleta R.

Bioinformatics. 2013 Feb 15;29(4):413-9. doi: 10.1093/bioinformatics/bts704. Epub 2012 Dec 13.

PMID:
23239673
32.

Linkage analysis confirms heterogeneity of hereditary gingival fibromatosis.

Nibali L, Medlar A, Stanescu H, Kleta R, Darbar U, Donos N.

Oral Dis. 2013 Jan;19(1):100-5. doi: 10.1111/j.1601-0825.2012.01965.x. Epub 2012 Jul 31.

PMID:
22849749
33.

A candidate gene for autoimmune myasthenia gravis.

Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG; NIH Intramural Sequencing Center, Elkahloun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG.

Neurology. 2012 Jul 24;79(4):342-7. Epub 2012 Jun 27.

34.

Filtering the genes and sorting the glomerular filter: a new piece in the puzzle?

Kleta R, Klootwijk E, Stanescu H, Bockenhauer D.

Nephrol Dial Transplant. 2011 Sep;26(9):2743-5. doi: 10.1093/ndt/gfr437. Review. No abstract available.

PMID:
21926407
35.

Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations.

Marks SD, Gullett AM, Brennan E, Tullus K, Jaureguiberry G, Klootwijk E, Stanescu HC, Kleta R, Woolf AS.

Pediatr Nephrol. 2011 Oct;26(10):1857-61. doi: 10.1007/s00467-011-1891-0. Epub 2011 May 8.

PMID:
21553326
36.

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, Voinescu C, Patel N, Pearce K, Hubank M, Stephens HA, Laundy V, Padmanabhan S, Zawadzka A, Hofstra JM, Coenen MJ, den Heijer M, Kiemeney LA, Bacq-Daian D, Stengel B, Powis SH, Brenchley P, Feehally J, Rees AJ, Debiec H, Wetzels JF, Ronco P, Mathieson PW, Kleta R.

N Engl J Med. 2011 Feb 17;364(7):616-26. doi: 10.1056/NEJMoa1009742.

37.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D.

J Physiol. 2011 Apr 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7.

38.

NT5E mutations and arterial calcifications.

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M.

N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923.

39.

Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.

Domené S, Stanescu H, Wallis D, Tinloy B, Pineda DE, Kleta R, Arcos-Burgos M, Roessler E, Muenke M.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):11-8. doi: 10.1002/ajmg.b.31141. Epub 2010 Nov 12.

PMID:
21184580
40.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T.

Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13.

41.

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.

Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M.

Mol Psychiatry. 2010 Nov;15(11):1053-66. doi: 10.1038/mp.2010.6. Epub 2010 Feb 16.

42.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ.

Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27.

43.

Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity.

Clark JA, Turner ML, Howard L, Stanescu H, Kleta R, Kopp JB.

BMC Dermatol. 2009 Jul 28;9:8. doi: 10.1186/1471-5945-9-8.

44.

Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.

Stanescu H, Wolfsberg TG, Moreland RT, Ayub MH, Erickson E, Westbroek W, Huizing M, Gahl WA, Helip-Wooley A.

Ann Hum Genet. 2009 Jul;73(Pt 4):422-8. doi: 10.1111/j.1469-1809.2009.00525.x.

45.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.

N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.

46.

Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.

Wallis D, Arcos-Burgos M, Jain M, Castellanos FX, Palacio JD, Pineda D, Lopera F, Stanescu H, Pineda D, Berg K, Palacio LG, Bailey-Wilson JE, Muenke M.

Atten Defic Hyperact Disord. 2009 May;1(1):19-24. doi: 10.1007/s12402-009-0003-5. Epub 2009 Apr 25.

PMID:
21432576
47.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23.

48.

Young Freud's letters to his Rumanian friend, Silberstein.

Stanescu H.

Isr Ann Psychiatr Relat Discip. 1971 Dec;9(3):195-207. No abstract available.

PMID:
4947436

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