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Items: 1 to 50 of 132

1.

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS.

Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28.

PMID:
31353810
2.

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.

Van Opstal D, van Veen S, Joosten M, Diderich KEM, Govaerts LCP, Polak J, van Koetsveld N, Boter M, Go ATJI, Papatsonis DNM, Prinsen K, Hoefsloot LH, Srebniak MI.

Prenat Diagn. 2019 Jul 18. doi: 10.1002/pd.5531. [Epub ahead of print]

PMID:
31321790
3.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.

Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8.

4.

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI.

Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27.

5.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H.

Hum Genet. 2018 May;137(5):389-400. doi: 10.1007/s00439-018-1880-5. Epub 2018 May 12.

6.

Mucolipidosis type III, a series of adult patients.

Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M.

J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27.

7.

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N.

J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23.

8.

The Immune Phenotype of Patients with CHARGE Syndrome.

Hsu P, Ma A, Barnes EH, Wilson M, Hoefsloot LH, Rinne T, Munns C, Williams G, Wong M, Mehr S.

J Allergy Clin Immunol Pract. 2016 Jan-Feb;4(1):96-103.e2. doi: 10.1016/j.jaip.2015.09.004. Epub 2015 Nov 7.

PMID:
26563674
9.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

10.

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA, Pierrache LH, Meester-Smoor MA, Klaver CC, van den Born LI, Hoyng CB, de Wijs IJ, Collin RW, Hoefsloot LH, Klevering BJ.

Mol Vis. 2015 Apr 28;21:461-76. eCollection 2015.

11.

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

Duvvari MR, Saksens NT, van de Ven JP, de Jong-Hesse Y, Schick T, Nillesen WM, Fauser S, Hoefsloot LH, Hoyng CB, de Jong EK, den Hollander AI.

Mol Vis. 2015 Mar 15;21:285-92. eCollection 2015.

12.

Early-onset stargardt disease: phenotypic and genotypic characteristics.

Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB.

Ophthalmology. 2015 Feb;122(2):335-44. doi: 10.1016/j.ophtha.2014.08.032. Epub 2014 Oct 17.

PMID:
25444351
13.

Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.

Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, Klaver CC, Hoyng CB, Cremers FP.

Hum Mutat. 2015 Jan;36(1):43-7. doi: 10.1002/humu.22717.

PMID:
25363634
14.

Foveal sparing in Stargardt disease.

van Huet RA, Bax NM, Westeneng-Van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB.

Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7467-78. doi: 10.1167/iovs.13-13825.

PMID:
25324290
15.

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Corsten-Janssen N, du Marchie Sarvaas GJ, Kerstjens-Frederikse WS, Hoefsloot LH, van Beynum IM, Kapusta L, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2014 Dec;164A(12):3003-9. doi: 10.1002/ajmg.a.36747. Epub 2014 Sep 24.

PMID:
25257999
16.

TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy.

Hofstra JM, Coenen MJ, Schijvenaars MM, Berden JH, van der Vlag J, Hoefsloot LH, Knoers NV, Wetzels JF, Nijenhuis T.

PLoS One. 2014 Jul 14;9(7):e102065. doi: 10.1371/journal.pone.0102065. eCollection 2014.

17.

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Seco CZ, Oonk AM, Domínguez-Ruiz M, Draaisma JM, Gandía M, Oostrik J, Neveling K, Kunst HP, Hoefsloot LH, del Castillo I, Pennings RJ, Kremer H, Admiraal RJ, Schraders M.

Eur J Hum Genet. 2015 Feb;23(2):189-94. doi: 10.1038/ejhg.2014.83. Epub 2014 Apr 30.

18.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Erratum in: Ophthalmology. 2017 Feb;124(2):273-274.

PMID:
24697911
19.

Genotype phenotype correlations for hearing impairment: approaches to management.

Hoefsloot LH, Feenstra I, Kunst HP, Kremer H.

Clin Genet. 2014 Jun;85(6):514-23. doi: 10.1111/cge.12339. Epub 2014 Feb 18. Review.

PMID:
24547994
20.

Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.

van Beelen E, Leijendeckers JM, Admiraal RJ, Huygen PL, Hoefsloot LH, Pennings RJ, Snik AF, Kunst HP.

Audiol Neurootol. 2014;19(2):106-14. doi: 10.1159/000356303. Epub 2014 Jan 10.

PMID:
24434941
21.

Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause.

Campos-Obando N, Oei L, Hoefsloot LH, Kiewiet RM, Klaver CC, Simon ME, Zillikens MC.

J Clin Endocrinol Metab. 2014 Apr;99(4):1107-11. doi: 10.1210/jc.2013-3238. Epub 2014 Jan 13.

PMID:
24423337
22.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG.

Eur J Hum Genet. 2014 Jun;22(6):844-6. doi: 10.1038/ejhg.2013.249. Epub 2013 Nov 6.

23.

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR.

Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.

PMID:
24123792
24.

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FPM, Collin RWJ.

Ophthalmology. 2013 Dec;120(12):2697-2705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29.

PMID:
24084495
25.

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

Freriks K, Timmers HJ, Netea-Maier RT, Beerendonk CC, Otten BJ, van Alfen-van der Velden JA, Traas MA, Mieloo H, van de Zande GW, Hoefsloot LH, Hermus AR, Smeets DF.

Eur J Med Genet. 2013 Sep;56(9):497-501. doi: 10.1016/j.ejmg.2013.07.008. Epub 2013 Aug 9.

PMID:
23933507
26.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM.

Mol Syndromol. 2013 Jun;4(5):235-45. doi: 10.1159/000351127. Epub 2013 May 28.

27.

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Hoefsloot LH, Roux AF, Bitner-Glindzicz M; contributors to EMQN DFNB1 best practice meeting.

Eur J Hum Genet. 2013 Nov;21(11):1325-9. doi: 10.1038/ejhg.2013.83. Epub 2013 May 22. No abstract available.

28.

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.

PMID:
23677905
29.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63.

30.

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM.

J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16.

31.

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Agha Z, Iqbal Z, Azam M, Hoefsloot LH, van Bokhoven H, Qamar R.

Gene. 2013 Apr 25;519(1):177-81. doi: 10.1016/j.gene.2013.01.047. Epub 2013 Feb 9.

PMID:
23403234
32.

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T.

Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub 2013 Jan 4.

PMID:
23291369
33.

Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes.

Hoefsloot LH, Corsten-Janssen N, van Ravenswaaij-Arts CM.

Expert Rev Mol Diagn. 2012 Nov;12(8):795-7. doi: 10.1586/erm.12.120. No abstract available.

PMID:
23249195
34.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

Khan MI, Ajmal M, Micheal S, Azam M, Hussain A, Shahzad A, Venselaar H, Bokhari H, de Wijs IJ, Hoefsloot LH, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.

Clin Genet. 2013 Sep;84(3):290-3. doi: 10.1111/cge.12039. Epub 2012 Nov 7. No abstract available.

PMID:
23134348
35.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Schraders M, Ruiz-Palmero L, Kalay E, Oostrik J, del Castillo FJ, Sezgin O, Beynon AJ, Strom TM, Pennings RJ, Zazo Seco C, Oonk AM, Kunst HP, Domínguez-Ruiz M, García-Arumi AM, del Campo M, Villamar M, Hoefsloot LH, Moreno F, Admiraal RJ, del Castillo I, Kremer H.

Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.

36.

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28.

PMID:
23023959
37.

Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).

van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stöbe L, Pennings RJ, Leuwer R, Snik AF, Kunst HP.

Hear Res. 2012 Sep;291(1-2):15-23. doi: 10.1016/j.heares.2012.07.001. Epub 2012 Jul 14.

PMID:
22796475
38.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM.

Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11.

PMID:
22539353
39.

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

van de Ven JP, Boon CJ, Fauser S, Hoefsloot LH, Smailhodzic D, Schoenmaker-Koller F, Klevering J, Klaver CC, den Hollander AI, Hoyng CB.

Arch Ophthalmol. 2012 Aug;130(8):1038-47.

PMID:
22491393
40.

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.

PMID:
22461308
41.

Clinical and genetic characteristics of late-onset Stargardt's disease.

Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB.

Ophthalmology. 2012 Jun;119(6):1199-210. doi: 10.1016/j.ophtha.2012.01.005. Epub 2012 Mar 24.

PMID:
22449572
42.

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM.

J Clin Endocrinol Metab. 2012 May;97(5):E858-62. doi: 10.1210/jc.2011-2652. Epub 2012 Mar 7.

PMID:
22399515
43.

Next-generation genetic testing for retinitis pigmentosa.

Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H.

Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Erratum in: Hum Mutat. 2013 Aug;34(8):1181.

44.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM.

Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15.

45.

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Kooper AJ, Pieters JJ, Faas BH, Hoefsloot LH, van der Burgt I, Zondervan HA, Smits AP.

Mol Cytogenet. 2012 Jan 27;5(1):7. doi: 10.1186/1755-8166-5-7.

46.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.

Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.

47.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.

Mol Vis. 2011;17:3013-24. Epub 2011 Nov 18.

48.

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH.

Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19.

49.

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP.

J Assoc Res Otolaryngol. 2011 Dec;12(6):753-66. doi: 10.1007/s10162-011-0282-3. Epub 2011 Jul 23.

50.

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H.

Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5.

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