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Items: 28

1.

Somatic Structural Alterations in Childhood Leukemia Can Be Backtracked in Neonatal Dried Blood Spots by Use of Whole-Genome Sequencing and Digital PCR.

Taylan F, Bang B, Öfverholm II, Tran AN, Heyman M, Barbany G, Zachariadis V, Nordgren A.

Clin Chem. 2018 Dec 5. pii: clinchem.2018.293548. doi: 10.1373/clinchem.2018.293548. [Epub ahead of print] No abstract available.

PMID:
30518665
2.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

PMID:
30290151
3.

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.

Kvarnung M, Taylan F, Nilsson D, Anderlid BM, Malmgren H, Lagerstedt-Robinson K, Holmberg E, Burstedt M, Nordenskjöld M, Nordgren A, Lundberg ES.

Clin Genet. 2018 Dec;94(6):528-537. doi: 10.1111/cge.13448. Epub 2018 Oct 15.

PMID:
30221345
4.

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

Costantini A, Skarp S, Kämpe A, Mäkitie RE, Pettersson M, Männikkö M, Jiao H, Taylan F, Lindstrand A, Mäkitie O.

Front Endocrinol (Lausanne). 2018 Jul 10;9:380. doi: 10.3389/fendo.2018.00380. eCollection 2018.

5.

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A.

Br J Haematol. 2018 Jul 13. doi: 10.1111/bjh.15494. [Epub ahead of print] No abstract available.

PMID:
30004112
6.

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Costantini A, Krallis PΝ, Kämpe A, Karavitakis EM, Taylan F, Mäkitie O, Doulgeraki A.

J Hum Genet. 2018 Aug;63(8):923-926. doi: 10.1038/s10038-018-0472-5. Epub 2018 Jun 8.

PMID:
29884797
7.

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

Costantini A, Tournis S, Kämpe A, Ul Ain N, Taylan F, Doulgeraki A, Mäkitie O.

Calcif Tissue Int. 2018 Sep;103(3):353-358. doi: 10.1007/s00223-018-0414-4. Epub 2018 Mar 23.

PMID:
29572562
8.

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

Tran AN, Taylan F, Zachariadis V, Ivanov Öfverholm I, Lindstrand A, Vezzi F, Lötstedt B, Nordenskjöld M, Nordgren A, Nilsson D, Barbany G.

PLoS One. 2018 Mar 12;13(3):e0193928. doi: 10.1371/journal.pone.0193928. eCollection 2018.

9.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

10.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH.

Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249.

11.

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O.

Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8.

PMID:
28884924
12.

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O.

J Bone Miner Res. 2017 Dec;32(12):2394-2404. doi: 10.1002/jbmr.3233. Epub 2017 Sep 6.

13.

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Kämpe AJ, Costantini A, Mäkitie RE, Jäntti N, Valta H, Mäyränpää M, Kröger H, Pekkinen M, Taylan F, Jiao H, Mäkitie O.

Osteoporos Int. 2017 Oct;28(10):3023-3032. doi: 10.1007/s00198-017-4150-9. Epub 2017 Jul 26.

14.

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.

Mäkitie RE, Kämpe AJ, Taylan F, Mäkitie O.

Curr Osteoporos Rep. 2017 Aug;15(4):303-310. doi: 10.1007/s11914-017-0388-6. Review.

PMID:
28646443
15.

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

Fernandez K, Asad S, Taylan F, Wahlgren CF, Bilcha KD, Nordenskjöld M, Winge MCG, Bradley M.

Pediatr Dermatol. 2017 May;34(3):e140-e141. doi: 10.1111/pde.13095. Epub 2017 Mar 10.

PMID:
28295514
16.

CRTAP variants in early-onset osteoporosis and recurrent fractures.

Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O.

Am J Med Genet A. 2017 Mar;173(3):806-808. doi: 10.1002/ajmg.a.38065. Epub 2016 Nov 30. No abstract available.

PMID:
27901313
17.

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.

Taylan F, Mäkitie O.

Horm Metab Res. 2016 Nov;48(11):745-754. Epub 2016 Nov 21. Review.

PMID:
27871115
18.

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.

Asad S, Winge MC, Wahlgren CF, Bilcha KD, Nordenskjöld M, Taylan F, Bradley M.

J Eur Acad Dermatol Venereol. 2016 Nov;30(11):1939-1941. doi: 10.1111/jdv.13806. Epub 2016 Aug 31.

PMID:
27581203
19.

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium, Byers PH, Zschocke J.

Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13.

20.

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, Berberoğlu M, Kämpe A, Kıykım E, Grigelioniene G, Tüysüz B, Mäkitie O.

J Bone Miner Res. 2016 Aug;31(8):1577-85. doi: 10.1002/jbmr.2834. Epub 2016 Apr 4.

21.

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.

Taylan F, Nilsson D, Asad S, Lieden A, Wahlgren CF, Winge MC, Bilcha KD, Nordenskjöld M, Bradley M.

J Allergy Clin Immunol. 2015 Aug;136(2):507-9.e19. doi: 10.1016/j.jaci.2015.02.010. Epub 2015 Mar 26. No abstract available.

PMID:
25819062
22.

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid BM, Nordgren A, Syk Lundberg E.

Clin Genet. 2016 Jan;89(1):99-103. doi: 10.1111/cge.12565. Epub 2015 Mar 4.

PMID:
25677735
23.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

24.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A.

J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7.

PMID:
24203977
25.

Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report.

Özbudak IH, Başsorgun CI, Ozbılım G, Lülecı G, Sarper A, Erdoğan A, Taylan F, Altiok E.

Turk Patoloji Derg. 2012;28(3):282-5. doi: 10.5146/tjpath.2012.01138.

26.

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.

Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O.

Clin Immunol. 2012 Oct;145(1):77-81. doi: 10.1016/j.clim.2012.08.003. Epub 2012 Aug 16.

27.

Meiotic recombinations within major histocompatibility complex of human embryos.

Taylan F, Altiok E.

Immunogenetics. 2012 Nov;64(11):839-44. doi: 10.1007/s00251-012-0644-y. Epub 2012 Aug 15.

PMID:
22893033
28.

Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006.

Altiok E, Taylan F, Yenen OS, Demirkeser G, Bozaci M, Onel D, Akcadag B, Iyisan AS, Ciblak M, Bozkaya E, Yuksel S, Badur S.

Emerg Infect Dis. 2008 Mar;14(3):491-2. doi: 10.3201/eid1403.061237.

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