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Items: 1 to 50 of 270

1.

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM, Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, van de Laar IMBH.

Eur J Hum Genet. 2018 Jul 9. doi: 10.1038/s41431-018-0208-1. [Epub ahead of print]

PMID:
29988065
2.

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW.

Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28.

3.

Do RET somatic mutations play a role in Hirschsprung disease?

Brosens E, MacKenzie KC, Alves MM, Hofstra RMW.

Genet Med. 2018 Mar 1. doi: 10.1038/gim.2018.6. [Epub ahead of print] No abstract available.

PMID:
29493586
4.

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

van den Akker PC, Pasmooij AMG, Joenje H, Hofstra RMW, Te Meerman GJ, Jonkman MF.

PLoS One. 2018 Feb 22;13(2):e0192994. doi: 10.1371/journal.pone.0192994. eCollection 2018.

5.

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

van Waning JI, Caliskan K, Hoedemaekers YM, van Spaendonck-Zwarts KY, Baas AF, Boekholdt SM, van Melle JP, Teske AJ, Asselbergs FW, Backx APCM, du Marchie Sarvaas GJ, Dalinghaus M, Breur JMPJ, Linschoten MPM, Verlooij LA, Kardys I, Dooijes D, Lekanne Deprez RH, IJpma AS, van den Berg MP, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, Majoor-Krakauer D.

J Am Coll Cardiol. 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019.

PMID:
29447731
6.

Amniocentesis is still the best option for advanced genomic testing in case of fetal malformations.

de Wit MC, Bunnik EM, Go ATJI, de Beaufort ID, Hofstra RMW, Steegers EAP, Galjaard RJH.

Prenat Diagn. 2017 Dec;37(13):1360-1363. doi: 10.1002/pd.5187. No abstract available.

PMID:
29149523
7.

Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.

Goverde A, Spaander MCW, Nieboer D, van den Ouweland AMW, Dinjens WNM, Dubbink HJ, Tops CJ, Ten Broeke SW, Bruno MJ, Hofstra RMW, Steyerberg EW, Wagner A.

Fam Cancer. 2018 Jul;17(3):361-370. doi: 10.1007/s10689-017-0039-1.

8.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM.

Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.

9.

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Houlleberghs H, Goverde A, Lusseveld J, Dekker M, Bruno MJ, Menko FH, Mensenkamp AR, Spaander MCW, Wagner A, Hofstra RMW, Te Riele H.

PLoS Genet. 2017 May 22;13(5):e1006765. doi: 10.1371/journal.pgen.1006765. eCollection 2017 May.

10.

NDRG4, an early detection marker for colorectal cancer, is specifically expressed in enteric neurons.

Vaes N, Lentjes MHFM, Gijbels MJ, Rademakers G, Daenen KL, Boesmans W, Wouters KAD, Geuzens A, Qu X, Steinbusch HPJ, Rutten BPF, Baldwin SH, Sharkey KA, Hofstra RMW, van Engeland M, Vanden Berghe P, Melotte V.

Neurogastroenterol Motil. 2017 Sep;29(9). doi: 10.1111/nmo.13095. Epub 2017 May 19.

PMID:
28524415
11.

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.

Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM.

Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14.

12.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.

Genome Biol. 2017 Mar 8;18(1):48. doi: 10.1186/s13059-017-1174-6.

13.

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age.

Goverde A, Spaander MC, van Doorn HC, Dubbink HJ, van den Ouweland AM, Tops CM, Kooi SG, de Waard J, Hoedemaeker RF, Bruno MJ, Hofstra RM, de Bekker-Grob EW, Dinjens WN, Steyerberg EW, Wagner A; LIMO study group.

Gynecol Oncol. 2016 Dec;143(3):453-459. doi: 10.1016/j.ygyno.2016.10.008. Epub 2016 Oct 24.

PMID:
27789085
14.

Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome.

Gonnaud L, Alves MM, Cremillieux C, Billiemaz K, Destombe S, Varlet F, Lopez M, Trapes L, Touraine R, Hofstra RM, Patural H.

Clin Res Hepatol Gastroenterol. 2016 Dec;40(6):e65-e67. doi: 10.1016/j.clinre.2015.12.018. Epub 2016 Oct 4.

PMID:
27720179
15.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM.

Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333.

PMID:
27702942
16.

The enteric nervous system: From embryology to therapy.

Burns AJ, Hofstra RM.

Dev Biol. 2016 Sep 15;417(2):127-8. doi: 10.1016/j.ydbio.2016.08.013. No abstract available.

17.

Genetics of enteric neuropathies.

Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM.

Dev Biol. 2016 Sep 15;417(2):198-208. doi: 10.1016/j.ydbio.2016.07.008. Epub 2016 Jul 15. Review.

18.

Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy.

Goverde A, Korsse SE, Wagner A, van Leerdam ME, Krak NC, Stoker J, van Buuren HR, Hofstra RM, Bruno MJ, Dewint P, Dekker E, Spaander MC.

J Clin Gastroenterol. 2017 Apr;51(4):e27-e33. doi: 10.1097/MCG.0000000000000592.

PMID:
27404294
19.

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, Baple EL, Dehghani M, Crosby AH, Hofstra RM.

Eur J Hum Genet. 2016 Nov;24(11):1627-1629. doi: 10.1038/ejhg.2016.58. Epub 2016 Jun 29.

20.

Epigenetics in ENS development and Hirschsprung disease.

Torroglosa A, Alves MM, Fernández RM, Antiñolo G, Hofstra RM, Borrego S.

Dev Biol. 2016 Sep 15;417(2):209-16. doi: 10.1016/j.ydbio.2016.06.017. Epub 2016 Jun 16. Review.

21.

Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.

Schriemer D, Sribudiani Y, IJpma A, Natarajan D, MacKenzie KC, Metzger M, Binder E, Burns AJ, Thapar N, Hofstra RMW, Eggen BJL.

Dev Biol. 2016 Aug 1;416(1):255-265. doi: 10.1016/j.ydbio.2016.06.004. Epub 2016 Jun 4.

22.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V.

Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.

PMID:
27090768
23.

White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies.

Burns AJ, Goldstein AM, Newgreen DF, Stamp L, Schäfer KH, Metzger M, Hotta R, Young HM, Andrews PW, Thapar N, Belkind-Gerson J, Bondurand N, Bornstein JC, Chan WY, Cheah K, Gershon MD, Heuckeroth RO, Hofstra RM, Just L, Kapur RP, King SK, McCann CJ, Nagy N, Ngan E, Obermayr F, Pachnis V, Pasricha PJ, Sham MH, Tam P, Vanden Berghe P.

Dev Biol. 2016 Sep 15;417(2):229-51. doi: 10.1016/j.ydbio.2016.04.001. Epub 2016 Apr 5. Review.

24.

Correspondence: SEMA4A variation and risk of colorectal cancer.

Kinnersley B, Chubb D, Dobbins SE, Frampton M, Buch S, Timofeeva MN, Castellví-Bel S, Farrington SM, Forsti A, Hampe J, Hemminki K, Hofstra RM, Northwood E, Palles C, Pinheiro M, Ruiz-Ponte C, Schafmayer C, Teixeira MR, Westers H, van Wezel T, Timothy Bishop D, Tomlinson I, Dunlop MG, Houlston RS.

Nat Commun. 2016 Mar 10;7:10611. doi: 10.1038/ncomms10611. No abstract available.

25.

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.

Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113. Epub 2016 Mar 7.

26.

L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

Christaller WA, Vos Y, Gebre-Medhin S, Hofstra RM, Schäfer MK.

Clin Genet. 2017 Jan;91(1):115-120. doi: 10.1111/cge.12763. Epub 2016 Mar 15.

PMID:
26891472
27.

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM.

J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093.

28.

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development.

Baardman ME, Zwier MV, Wisse LJ, Gittenberger-de Groot AC, Kerstjens-Frederikse WS, Hofstra RM, Jurdzinski A, Hierck BP, Jongbloed MR, Berger RM, Plösch T, DeRuiter MC.

Dis Model Mech. 2016 Apr;9(4):413-25. doi: 10.1242/dmm.022053. Epub 2016 Jan 28.

29.

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.

Kerstjens-Frederikse WS, van de Laar IM, Vos YJ, Verhagen JM, Berger RM, Lichtenbelt KD, Klein Wassink-Ruiter JS, van der Zwaag PA, du Marchie Sarvaas GJ, Bergman KA, Bilardo CM, Roos-Hesselink JW, Janssen JH, Frohn-Mulder IM, van Spaendonck-Zwarts KY, van Melle JP, Hofstra RM, Wessels MW.

Genet Med. 2016 Sep;18(9):914-23. doi: 10.1038/gim.2015.193. Epub 2016 Jan 28.

PMID:
26820064
30.

Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations.

Sijmons RH, Hofstra RM.

DNA Repair (Amst). 2016 Feb;38:155-62. doi: 10.1016/j.dnarep.2015.11.018. Epub 2015 Dec 11. Review.

PMID:
26746812
31.

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM.

Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8.

PMID:
26647307
32.

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS.

Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286.

33.

Hirschsprung Disease and Activation of Hedgehog Signaling via GLI1-3 Mutations.

Young HM, Stamp LA, Hofstra RM.

Gastroenterology. 2015 Dec;149(7):1672-5. doi: 10.1053/j.gastro.2015.10.023. Epub 2015 Oct 23. No abstract available.

PMID:
26526715
34.

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T, Melhem S, Patria SY, de Graaf BM, Sinke RJ, Viel M, Dijkhuis J, Sadewa AH, Purwohardjono R, Soenarto Y, Hofstra RM, Sribudiani Y.

Eur J Hum Genet. 2016 Jun;24(6):823-9. doi: 10.1038/ejhg.2015.214. Epub 2015 Sep 23.

35.

Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

van der Werf CS, Halim D, Verheij JB, Alves MM, Hofstra RM.

Biochim Biophys Acta. 2015 Nov;1852(11):2352-61. doi: 10.1016/j.bbadis.2015.08.007. Epub 2015 Aug 15. Review.

36.

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A.

Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014.

37.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.

38.

Endocrine tumours: progressive metastatic medullary thyroid carcinoma: first- and second-line strategies.

Links TP, Verbeek HH, Hofstra RM, Plukker JT.

Eur J Endocrinol. 2015 Jun;172(6):R241-51. doi: 10.1530/EJE-14-0726. Epub 2015 Jan 27. Review.

39.

Charles Buys (1942-2014).

Sijmons RH, te Meerman GJ, Hofstra RM.

Eur J Hum Genet. 2014 Dec;22(12):1343-4. doi: 10.1038/ejhg.2014.207. No abstract available.

40.

New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.

Ferreira AM, Tuominen I, Sousa S, Gerbens F, van Dijk-Bos K, Osinga J, Kooi KA, Sanjabi B, Esendam C, Oliveira C, Terpstra P, Hardonk M, van der Sluis T, Zazula M, Stachura J, van der Zee AG, Hollema H, Sijmons RH, Aaltonen LA, Seruca R, Hofstra RM, Westers H.

Hum Mutat. 2014 Dec;35(12):1514-23. doi: 10.1002/humu.22700.

PMID:
25231886
41.

High frequency of RPL22 mutations in microsatellite-unstable colorectal and endometrial tumors.

Ferreira AM, Tuominen I, van Dijk-Bos K, Sanjabi B, van der Sluis T, van der Zee AG, Hollema H, Zazula M, Sijmons RH, Aaltonen LA, Westers H, Hofstra RM.

Hum Mutat. 2014 Dec;35(12):1442-5. doi: 10.1002/humu.22686.

PMID:
25196364
42.

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, Roeleveld N, van Rooij IA.

Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):483-92. doi: 10.1002/bdra.23256. Epub 2014 May 20.

PMID:
24841934
43.

Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.

Kinnersley B, Buch S, Castellví-Bel S, Farrington SM, Forsti A, Hampe J, Hemminki K, Hofstra RM, Northwood E, Palles C, Pinheiro M, Ruiz-Ponte C, Schafmayer C, Teixeira MR, Westers H, Wezel Tv, Bishop DT, Tomlinson I, Dunlop MG, Houlston RS.

J Natl Cancer Inst. 2014 Apr 26;106(5). pii: dju086. doi: 10.1093/jnci/dju086. No abstract available.

44.

The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.

Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A; EPICOLON Consortium, Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S.

PLoS One. 2014 Apr 17;9(4):e95022. doi: 10.1371/journal.pone.0095022. eCollection 2014.

45.

Pathways systematically associated to Hirschsprung's disease.

Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S.

Orphanet J Rare Dis. 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187.

46.

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

Aalberts JJ, van Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP.

Gene. 2014 Jan 15;534(1):40-3. doi: 10.1016/j.gene.2013.10.033. Epub 2013 Oct 24.

PMID:
24161884
47.

Novel no-stop FLNA mutation causes multi-organ involvement in males.

Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS.

Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19.

PMID:
23873601
48.

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.

Alves MM, Sribudiani Y, Brouwer RW, Amiel J, Antiñolo G, Borrego S, Ceccherini I, Chakravarti A, Fernández RM, Garcia-Barcelo MM, Griseri P, Lyonnet S, Tam PK, van Ijcken WF, Eggen BJ, te Meerman GJ, Hofstra RM.

Dev Biol. 2013 Oct 1;382(1):320-9. doi: 10.1016/j.ydbio.2013.05.019. Epub 2013 May 23. Review.

49.

The cardiac phenotype in patients with a CHD7 mutation.

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.

Circ Cardiovasc Genet. 2013 Jun;6(3):248-54.

50.

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

Jannot AS, Pelet A, Henrion-Caude A, Chaoui A, Masse-Morel M, Arnold S, Sanlaville D, Ceccherini I, Borrego S, Hofstra RM, Munnich A, Bondurand N, Chakravarti A, Clerget-Darpoux F, Amiel J, Lyonnet S.

PLoS One. 2013 May 6;8(5):e62519. doi: 10.1371/journal.pone.0062519. Print 2013.

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