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Items: 1 to 50 of 358

1.

Foveal Sparing in Central Retinal Dystrophies.

Bax NM, Valkenburg D, Lambertus S, Klevering BJ, Boon CJF, Holz FG, Cremers FPM, Fleckenstein M, Hoyng CB, Lindner M; for the Foveal Sparing Atrophy Study Team (FAST).

Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3456-3467. doi: 10.1167/iovs.18-26533.

PMID:
31398255
2.

Identification of splice defects due to non-canonical splice site or deep-intronic variants in ABCA4.

Fadaie Z, Khan M, Del Pozo-Valero M, Cornelis SS, Ayuso C, Cremers FPM, Roosing S; ABCA4 Studygroup.

Hum Mutat. 2019 Aug 9. doi: 10.1002/humu.23890. [Epub ahead of print]

PMID:
31397521
3.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C.

Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4.

4.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM.

Hum Mutat. 2019 Jun 18. doi: 10.1002/humu.23787. [Epub ahead of print]

PMID:
31212395
5.

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina.

Tornabene P, Trapani I, Minopoli R, Centrulo M, Lupo M, de Simone S, Tiberi P, Dell'Aquila F, Marrocco E, Iodice C, Iuliano A, Gesualdo C, Rossi S, Giaquinto L, Albert S, Hoyng CB, Polishchuk E, Cremers FPM, Surace EM, Simonelli F, De Matteis MA, Polishchuk R, Auricchio A.

Sci Transl Med. 2019 May 15;11(492). pii: eaav4523. doi: 10.1126/scitranslmed.aav4523.

PMID:
31092694
6.

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Verbakel SK, Fadaie Z, Klevering BJ, van Genderen MM, Feenstra I, Cremers FPM, Hoyng CB, Roosing S.

Mol Genet Genomic Med. 2019 Jun;7(6):e660. doi: 10.1002/mgg3.660. Epub 2019 Apr 4.

7.

The absence of fundus abnormalities in Stargardt disease.

Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB.

Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1147-1157. doi: 10.1007/s00417-019-04280-8. Epub 2019 Mar 22.

PMID:
30903310
8.

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M.

Mol Vis. 2019 Feb 8;25:106-117. eCollection 2019.

9.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E.

Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23.

PMID:
30670881
10.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM.

Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15.

PMID:
30643219
11.

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N, Feldhaus B, Khan MI, Cremers FPM, Kohl S, Wissinger B, Zobor D.

PLoS One. 2018 Dec 21;13(12):e0205380. doi: 10.1371/journal.pone.0205380. eCollection 2018.

12.

Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.

Cremers FPM, Cornelis SS, Runhart EH, Astuti GDN.

Invest Ophthalmol Vis Sci. 2018 Nov 1;59(13):5566-5568. doi: 10.1167/iovs.18-25944. No abstract available.

PMID:
30480704
13.

A visual probe positioning tool for 4D ultrasound-guided radiotherapy.

Ipsen S, Bruder R, Kuhlemann I, Jauer P, Motisi L, Cremers F, Ernst F, Schweikard A.

Conf Proc IEEE Eng Med Biol Soc. 2018 Jul;2018:883-886. doi: 10.1109/EMBC.2018.8512390.

PMID:
30440532
14.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A.

Parkinsonism Relat Disord. 2019 Apr;61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15. No abstract available.

PMID:
30343981
15.

Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

Khan M, Fadaie Z, Cornelis SS, Cremers FPM, Roosing S.

Methods Mol Biol. 2019;1834:3-27. doi: 10.1007/978-1-4939-8669-9_1. Review.

PMID:
30324433
16.

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

Karjosukarso DW, Cremers FPM, van Nouhuys CE, Collin RWJ.

Eur J Hum Genet. 2018 Dec;26(12):1819-1823. doi: 10.1038/s41431-018-0243-y. Epub 2018 Sep 4.

PMID:
30181612
17.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF.

PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug.

18.

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S.

J Med Genet. 2018 Oct;55(10):705-712. doi: 10.1136/jmedgenet-2018-105364. Epub 2018 Aug 17.

PMID:
30120214
19.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.

PMID:
30105367
20.

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM.

Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881.

PMID:
29971439
21.

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.

Garanto A, van der Velde-Visser SD, Cremers FPM, Collin RWJ.

Adv Exp Med Biol. 2018;1074:83-89. doi: 10.1007/978-3-319-75402-4_11.

PMID:
29721931
22.

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

Song JY, Aravand P, Nikonov S, Leo L, Lyubarsky A, Bennicelli JL, Pan J, Wei Z, Shpylchak I, Herrera P, Bennett DJ, Commins N, Maguire AM, Pham J, den Hollander AI, Cremers FPM, Koenekoop RK, Roepman R, Nishina P, Zhou S, Pan W, Ying GS, Aleman TS, de Melo J, McNamara I, Sun J, Mills J, Bennett J.

Mol Ther. 2018 Jun 6;26(6):1581-1593. doi: 10.1016/j.ymthe.2018.03.015. Epub 2018 Mar 21.

23.

Improvement of dose calculation in radiation therapy due to metal artifact correction using the augmented likelihood image reconstruction.

Ziemann C, Stille M, Cremers F, Buzug TM, Rades D.

J Appl Clin Med Phys. 2018 May;19(3):227-233. doi: 10.1002/acm2.12325. Epub 2018 Apr 17.

24.

Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

Cremers FPM, Boon CJF, Bujakowska K, Zeitz C.

Genes (Basel). 2018 Apr 16;9(4). pii: E215. doi: 10.3390/genes9040215.

25.

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.

Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF.

Retina. 2019 Jun;39(6):1186-1199. doi: 10.1097/IAE.0000000000002125.

PMID:
29528978
26.

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM.

Am J Hum Genet. 2018 Apr 5;102(4):517-527. doi: 10.1016/j.ajhg.2018.02.008. Epub 2018 Mar 8.

27.

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.

Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI.

Genes (Basel). 2018 Mar 7;9(3). pii: E145. doi: 10.3390/genes9030145.

28.

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.

Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI.

Genes (Basel). 2018 Jan 30;9(2). pii: E68. doi: 10.3390/genes9020068. Erratum in: Genes (Basel). 2018 Mar 07;9(3):.

29.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1). pii: E21. doi: 10.3390/genes9010021.

30.

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.

Weisz Hubshman M, Broekman S, van Wijk E, Cremers F, Abu-Diab A, Khateb S, Tzur S, Lagovsky I, Smirin-Yosef P, Sharon D, Haer-Wigman L, Banin E, Basel-Vanagaite L, de Vrieze E.

Hum Mol Genet. 2018 Feb 15;27(4):614-624. doi: 10.1093/hmg/ddx428.

PMID:
29272404
31.

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ; University of Washington Center for Mendelian Genomics, van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L.

Genes (Basel). 2017 Dec 11;8(12). pii: E381. doi: 10.3390/genes8120381.

32.

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Sangermano R, Khan M, Cornelis SS, Richelle V, Albert S, Garanto A, Elmelik D, Qamar R, Lugtenberg D, van den Born LI, Collin RWJ, Cremers FPM.

Genome Res. 2018 Jan;28(1):100-110. doi: 10.1101/gr.226621.117. Epub 2017 Nov 21.

33.

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Messchaert M, Haer-Wigman L, Khan MI, Cremers FPM, Collin RWJ.

Hum Mutat. 2018 Feb;39(2):177-186. doi: 10.1002/humu.23371. Epub 2017 Dec 26.

PMID:
29159838
34.

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

Roosing S, Cremers FPM, Riemslag FCC, Zonneveld-Vrieling MN, Talsma HE, Klessens-Godfroy FJM, den Hollander AI, van den Born LI.

Genes (Basel). 2017 Aug 22;8(8). pii: E208. doi: 10.3390/genes8080208.

35.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
36.

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

Ghofrani M, Yahyaei M, Brunner HG, Cremers FP, Movasat M, Imran Khan M, Keramatipour M.

Iran Biomed J. 2017 Sep;21(5):294-302. Epub 2017 May 2.

37.

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

Nguyen TT, Hull S, Roepman R, van den Born LI, Oud MM, de Vrieze E, Hetterschijt L, Letteboer SJF, van Beersum SEC, Blokland EA, Yntema HG, Cremers FPM, van der Zwaag PA, Arno G, van Wijk E, Webster AR, Haer-Wigman L.

J Med Genet. 2017 Sep;54(9):624-632. doi: 10.1136/jmedgenet-2016-104200. Epub 2017 Apr 25.

38.

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM.

Ophthalmology. 2017 Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13.

39.

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.

Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.

Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21.

PMID:
28341475
40.

The effects of metal artifact reduction on the retrieval of attenuation values.

Ziemann C, Stille M, Cremers F, Rades D, Buzug TM.

J Appl Clin Med Phys. 2017 Jan;18(1):243-250. doi: 10.1002/acm2.12002. Epub 2016 Dec 5.

41.

Dosimetric Implications of Residual Tracking Errors During Robotic SBRT of Liver Metastases.

Chan M, Grehn M, Cremers F, Siebert FA, Wurster S, Huttenlocher S, Dunst J, Hildebrandt G, Schweikard A, Rades D, Ernst F, Blanck O.

Int J Radiat Oncol Biol Phys. 2017 Mar 15;97(4):839-848. doi: 10.1016/j.ijrobp.2016.11.041. Epub 2016 Nov 27.

PMID:
28244421
42.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG.

Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22.

43.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C.

Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282.

44.

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP.

Hum Mutat. 2017 Apr;38(4):400-408. doi: 10.1002/humu.23165. Epub 2017 Feb 3.

PMID:
28044389
45.

Asymmetric Inter-Eye Progression in Stargardt Disease.

Lambertus S, Bax NM, Groenewoud JM, Cremers FP, van der Wilt GJ, Klevering BJ, Theelen T, Hoyng CB.

Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6824-6830. doi: 10.1167/iovs.16-20963.

PMID:
28002570
46.

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Astuti GD, Arno G, Hull S, Pierrache L, Venselaar H, Carss K, Raymond FL, Collin RW, Faradz SM, van den Born LI, Webster AR, Cremers FP.

Invest Ophthalmol Vis Sci. 2016 Nov 1;57(14):6180-6187. doi: 10.1167/iovs.16-20148.

PMID:
27842159
47.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C.

Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Erratum in: Genet Med. 2017 Aug;19(8):962.

PMID:
26986877
48.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S, Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E, Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, Roepman R, Azam M, Arts HH, Qamar R.

Sci Rep. 2016 Oct 6;6:34764. doi: 10.1038/srep34764.

49.

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Burin-des-Roziers C, Rothschild PR, Layet V, Chen JM, Ghiotti T, Leroux C, Cremers FP, Brézin AP, Valleix S.

Hum Mutat. 2017 Jan;38(1):43-47. doi: 10.1002/humu.23124. Epub 2016 Nov 23.

PMID:
27667122
50.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4806-13. doi: 10.1167/iovs.16-19687. Erratum in: Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):923. van den Born, Ingeborgh [corrected to van den Born, L Ingeborgh].

PMID:
27623334

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