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Items: 1 to 50 of 159

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.

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.

Frisk S, Grandpeix-Guyodo C, Popovic Silwerfeldt K, Hjartarson HT, Chatzianastassiou D, Magnusson I, Laurell T, Nordgren A.

Clin Case Rep. 2018 Sep 21;6(11):2103-2110. doi: 10.1002/ccr3.1783. eCollection 2018 Nov.

3.

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A.

PLoS Genet. 2018 Nov 12;14(11):e1007780. doi: 10.1371/journal.pgen.1007780. eCollection 2018 Nov.

4.

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
5.

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
6.

Deep learning is combined with massive-scale citizen science to improve large-scale image classification.

Sullivan DP, Winsnes CF, Åkesson L, Hjelmare M, Wiking M, Schutten R, Campbell L, Leifsson H, Rhodes S, Nordgren A, Smith K, Revaz B, Finnbogason B, Szantner A, Lundberg E.

Nat Biotechnol. 2018 Oct;36(9):820-828. doi: 10.1038/nbt.4225. Epub 2018 Aug 20.

PMID:
30125267
7.

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.

Pettersson M, Vaz R, Hammarsjö A, Eisfeldt J, Carvalho CMB, Hofmeister W, Tham E, Horemuzova E, Voss U, Nishimura G, Klintberg B, Nordgren A, Nilsson D, Grigelioniene G, Lindstrand A.

Hum Mutat. 2018 Oct;39(10):1456-1467. doi: 10.1002/humu.23605. Epub 2018 Aug 22.

PMID:
30080953
8.

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
9.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF.

Biol Psychiatry. 2018 Mar 15. pii: S0006-3223(18)31303-9. doi: 10.1016/j.biopsych.2018.02.1173. [Epub ahead of print]

PMID:
29724491
10.

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.

11.

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

Nag HE, Nordgren A, Anderlid BM, Nærland T.

Mol Autism. 2018 Jan 8;9:1. doi: 10.1186/s13229-017-0184-2. eCollection 2018.

12.

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Stamouli S, Anderlid BM, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, Nordgren A, Scherer SW, Lichtenstein P, Tammimies K, Bölte S.

Twin Res Hum Genet. 2018 Feb;21(1):1-11. doi: 10.1017/thg.2017.69. Epub 2018 Jan 8.

PMID:
29307321
13.

Intellectual Disability & Rare Disorders: A Diagnostic Challenge.

Kvarnung M, Nordgren A.

Adv Exp Med Biol. 2017;1031:39-54. doi: 10.1007/978-3-319-67144-4_3. Review.

PMID:
29214565
14.

How to respond to resistiveness towards assistive technologies among persons with dementia.

Nordgren A.

Med Health Care Philos. 2018 Sep;21(3):411-421. doi: 10.1007/s11019-017-9816-8.

15.

Minor physical anomalies in neurodevelopmental disorders: a twin study.

Myers L, Anderlid BM, Nordgren A, Willfors C, Kuja-Halkola R, Tammimies K, Bölte S.

Child Adolesc Psychiatry Ment Health. 2017 Nov 28;11:57. doi: 10.1186/s13034-017-0195-y. eCollection 2017.

16.

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.

17.

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE.

Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19.

18.

Otillräcklig kunskap om samband mellan könskromosom­­avvikelser och psykiatriska diagnoser - Viktigt att barn och unga utreds och får rätt omhändertagande.

Björlin Avdic H, Giacobini M, Anderlid BM, Nordgren A, Frisén L.

Lakartidningen. 2017 Jun 2;114. pii: ELYP. Review. Swedish.

19.

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid BM, Nordgren A, Lindstrand A.

Am J Med Genet A. 2017 May;173(5):1396-1399. doi: 10.1002/ajmg.a.38214. Epub 2017 Mar 20.

PMID:
28319323
20.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

21.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study, FitzPatrick DR.

Genet Med. 2017 Aug;19(8):900-908. doi: 10.1038/gim.2016.211. Epub 2017 Feb 2.

22.

Medical history of discordant twins and environmental etiologies of autism.

Willfors C, Carlsson T, Anderlid BM, Nordgren A, Kostrzewa E, Berggren S, Ronald A, Kuja-Halkola R, Tammimies K, Bölte S.

Transl Psychiatry. 2017 Jan 31;7(1):e1014. doi: 10.1038/tp.2016.269.

23.

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, Nishimura G, Nordgren A, Miyake N, Tham E, Grigelioniene G, Ikegawa S.

J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26.

PMID:
28123176
24.

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A.

Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5.

25.

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Bramswig NC, Lüdecke HJ, Pettersson M, Albrecht B, Bernier RA, Cremer K, Eichler EE, Falkenstein D, Gerdts J, Jansen S, Kuechler A, Kvarnung M, Lindstrand A, Nilsson D, Nordgren A, Pfundt R, Spruijt L, Surowy HM, de Vries BB, Wieland T, Engels H, Strom TM, Kleefstra T, Wieczorek D.

Hum Genet. 2017 Feb;136(2):179-192. doi: 10.1007/s00439-016-1743-x. Epub 2016 Nov 15.

26.

Genes, body clocks and prevention of sleep problems.

Nordgren A.

Med Health Care Philos. 2016 Dec;19(4):569-579.

PMID:
27053223
27.

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.

28.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC.

Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20.

PMID:
27648933
29.

Erratum.

Wincent J, Luthman A, van Belzen M, van der Lans C, Albert J, Nordgren A, Anderlid BM.

Mol Genet Genomic Med. 2016 May 12;4(3):367. doi: 10.1002/mgg3.218. eCollection 2016 May.

30.

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.

Ivanov Öfverholm I, Tran AN, Olsson L, Zachariadis V, Heyman M, Rudd E, Syk Lundberg E, Nordenskjöld M, Johansson B, Nordgren A, Barbany G.

Leuk Lymphoma. 2016 Sep;57(9):2161-70. doi: 10.3109/10428194.2015.1136740. Epub 2016 Apr 19.

PMID:
27090575
31.

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

Paucar M, Malmgren H, Taylor M, Reynolds JJ, Svenningsson P, Press R, Nordgren A.

Neurol Genet. 2016 Jan 21;2(1):e49. doi: 10.1212/NXG.0000000000000049. eCollection 2016 Feb.

32.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S.

Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28.

33.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B; DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T.

Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.

34.

Increased risk of colorectal cancer in patients diagnosed with breast cancer in women.

Lu Y, Segelman J, Nordgren A, Lindström L, Frisell J, Martling A.

Cancer Epidemiol. 2016 Apr;41:57-62. doi: 10.1016/j.canep.2016.01.006. Epub 2016 Jan 27.

PMID:
26826682
35.

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Wincent J, Luthman A, van Belzen M, van der Lans C, Albert J, Nordgren A, Anderlid BM.

Mol Genet Genomic Med. 2015 Sep 22;4(1):39-45. doi: 10.1002/mgg3.177. eCollection 2016 Jan. Erratum in: Mol Genet Genomic Med. 2016 May;4(3):367.

36.

PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.

Marincevic-Zuniga Y, Zachariadis V, Cavelier L, Castor A, Barbany G, Forestier E, Fogelstrand L, Heyman M, Abrahamsson J, Lönnerholm G, Nordgren A, Syvänen AC, Nordlund J.

Haematologica. 2016 Jan;101(1):e20-3. doi: 10.3324/haematol.2015.132332. Epub 2015 Oct 22. No abstract available.

37.

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu.

Hammarsjö A, Nordgren A, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Wedrén S, Nordenskjöld M, Nishimura G, Grigelioniene G.

Am J Med Genet A. 2016 Jan;170A(1):266-9. doi: 10.1002/ajmg.a.37387. Epub 2015 Sep 30. No abstract available.

PMID:
26420734
38.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.130. No abstract available.

39.

The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013.

Olsson L, Ivanov Öfverholm I, Norén-Nyström U, Zachariadis V, Nordlund J, Sjögren H, Golovleva I, Nordgren A, Paulsson K, Heyman M, Barbany G, Johansson B.

Br J Haematol. 2015 Sep;170(6):847-58. doi: 10.1111/bjh.13514. Epub 2015 May 27.

PMID:
26018335
40.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G.

Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13.

41.

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Paulsson K, Lilljebjörn H, Biloglav A, Olsson L, Rissler M, Castor A, Barbany G, Fogelstrand L, Nordgren A, Sjögren H, Fioretos T, Johansson B.

Nat Genet. 2015 Jun;47(6):672-6. doi: 10.1038/ng.3301. Epub 2015 May 11.

PMID:
25961940
42.

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

Reynaert N, Ockeloen CW, Sävendahl L, Beckers D, Devriendt K, Kleefstra T, Carels CE, Grigelioniene G, Nordgren A, Francois I, de Zegher F, Casteels K.

Horm Res Paediatr. 2015;83(5):361-4. doi: 10.1159/000380908. Epub 2015 Apr 1.

PMID:
25833229
43.

Children's Views on Long-Term Screening for Type 1 Diabetes.

Swartling U, Helgesson G, Ludvigsson J, Hansson MG, Nordgren A.

J Empir Res Hum Res Ethics. 2014 Oct;9(4):1-9. doi: 10.1177/1556264614544456. Epub 2014 Aug 11.

PMID:
25747292
44.

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia.

Nordlund J, Bäcklin CL, Zachariadis V, Cavelier L, Dahlberg J, Öfverholm I, Barbany G, Nordgren A, Övernäs E, Abrahamsson J, Flaegstad T, Heyman MM, Jónsson ÓG, Kanerva J, Larsson R, Palle J, Schmiegelow K, Gustafsson MG, Lönnerholm G, Forestier E, Syvänen AC.

Clin Epigenetics. 2015 Feb 17;7:11. doi: 10.1186/s13148-014-0039-z. eCollection 2015.

45.

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A.

Am J Hum Genet. 2015 Mar 5;96(3):507-13. doi: 10.1016/j.ajhg.2015.01.016. Epub 2015 Feb 26.

46.

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
47.

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.

Winberg J, Berggren H, Malm T, Johansson S, Johansson Ramgren J, Nilsson B, Liedén A, Nordenskjöld A, Gustavsson P, Nordgren A.

Eur J Med Genet. 2015 Mar;58(3):129-33. doi: 10.1016/j.ejmg.2015.01.003. Epub 2015 Jan 31.

PMID:
25652018
48.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.

Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270.

49.

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A.

Mol Genet Genomic Med. 2014 Sep;2(5):402-11. doi: 10.1002/mgg3.81. Epub 2014 May 14.

50.

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26. doi: 10.1002/ajmg.c.31413. Epub 2014 Aug 28.

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