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Items: 1 to 50 of 185

1.

Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques.

Vaz R, Hofmeister W, Lindstrand A.

Int J Mol Sci. 2019 Mar 14;20(6). pii: E1296. doi: 10.3390/ijms20061296. Review.

2.

Serious complications due to acute rhinosinusitis in children up to five years old in Stockholm, Sweden - Still a challenge in the pneumococcal conjugate vaccine era.

Dennison SH, Ask LS, Eriksson M, Granath A, Hertting O, Bennet R, Lindstrand A, Masaba P, Dimitriou P, Stjärne P.

Int J Pediatr Otorhinolaryngol. 2019 Feb 25;121:50-54. doi: 10.1016/j.ijporl.2019.02.034. [Epub ahead of print]

PMID:
30861428
3.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

PMID:
30827496
4.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.

Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T.

Nat Med. 2019 Feb 25. doi: 10.1038/s41591-019-0353-2. [Epub ahead of print]

PMID:
30804514
5.

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

Eisfeldt J, Pettersson M, Vezzi F, Wincent J, Käller M, Gruselius J, Nilsson D, Syk Lundberg E, Carvalho CMB, Lindstrand A.

PLoS Genet. 2019 Feb 8;15(2):e1007858. doi: 10.1371/journal.pgen.1007858. eCollection 2019 Feb.

6.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Salehi Karlslätt K, Pettersson M, Jäntti N, Szafranski P, Wester T, Husberg B, Ullberg U, Stankiewicz P, Nordgren A, Lundin J, Lindstrand A, Nordenskjöld A.

Mol Genet Genomic Med. 2019 Mar;7(3):e549. doi: 10.1002/mgg3.549. Epub 2019 Jan 10.

7.

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.

8.

Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, Sweden.

Levine H, Mohri H, Ekbom A, Ramos L, Parker G, Roldan E, Jovine L, Koelle S, Lindstrand A, Immler S, Mortimer S, Mortimer D, van der Horst G, Ishijima S, Aneck-Hahn N, Baldi E, Menkveld R, Rothmann SA, Giwercman A, Giwercman Y, Holmberg M, Kvist U, Björndahl L, Holmberg R, Arver S, Flanagan J, Drevet JR.

Basic Clin Androl. 2018 Oct 29;28:13. doi: 10.1186/s12610-018-0077-z. eCollection 2018.

9.

Perspectives on the Measles, Mumps and Rubella Vaccination among Somali Mothers in Stockholm.

Jama A, Ali M, Lindstrand A, Butler R, Kulane A.

Int J Environ Res Public Health. 2018 Nov 1;15(11). pii: E2428. doi: 10.3390/ijerph15112428.

10.

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis.

Pettersson M, Eisfeldt J, Syk Lundberg E, Lundin J, Lindstrand A.

Mutat Res. 2018 Nov;812:1-4. doi: 10.1016/j.mrfmmm.2018.10.001. Epub 2018 Oct 22.

PMID:
30384002
11.

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
12.

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.

13.
14.

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.

Kiselev A, Vaz R, Knyazeva A, Khudiakov A, Tarnovskaya S, Liu J, Sergushichev A, Kazakov S, Frishman D, Smolina N, Pervunina T, Jorholt J, Sjoberg G, Vershinina T, Rudenko D, Arner A, Sejersen T, Lindstrand A, Kostareva A.

Hum Mutat. 2018 Sep;39(9):1161-1172. doi: 10.1002/humu.23559. Epub 2018 Jun 17.

PMID:
29858533
15.

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. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15.

PMID:
29724491
16.

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB.

Hum Mutat. 2018 Jul;39(7):939-946. doi: 10.1002/humu.23537. Epub 2018 May 11.

PMID:
29696747
17.

AMYCNE: Confident copy number assessment using whole genome sequencing data.

Eisfeldt J, Nilsson D, Andersson-Assarsson JC, Lindstrand A.

PLoS One. 2018 Mar 26;13(3):e0189710. doi: 10.1371/journal.pone.0189710. eCollection 2018.

18.

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.

19.

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.

Hofmeister W, Pettersson M, Kurtoglu D, Armenio M, Eisfeldt J, Papadogiannakis N, Gustavsson P, Lindstrand A.

Hum Mutat. 2018 Apr;39(4):495-505. doi: 10.1002/humu.23388. Epub 2018 Jan 11.

PMID:
29285825
20.

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.

21.

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

Eisfeldt J, Vezzi F, Olason P, Nilsson D, Lindstrand A.

Version 2. F1000Res. 2017 May 10 [revised 2017 Jan 1];6:664. doi: 10.12688/f1000research.11168.2. eCollection 2017.

22.

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.

23.

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.

24.

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.

Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, Andersson-Assarsson JC, Mäkitie O, Lindstrand A.

J Clin Endocrinol Metab. 2017 Aug 1;102(8):3029-3039. doi: 10.1210/jc.2017-00565.

PMID:
28605459
25.

Receiving early information and trusting Swedish child health centre nurses increased parents' willingness to vaccinate against rotavirus infections.

Schollin Ask L, Hjern A, Lindstrand A, Olen O, Sjögren E, Blennow M, Örtqvist Å.

Acta Paediatr. 2017 Aug;106(8):1309-1316. doi: 10.1111/apa.13872. Epub 2017 Jun 1.

PMID:
28419538
26.

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
27.

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.

28.

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H.

J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24.

29.

The impact of pneumococcal conjugate vaccine on community-acquired pneumonia hospitalizations in children with comorbidity.

Sterky E, Bennet R, Lindstrand A, Eriksson M, Nilsson A.

Eur J Pediatr. 2017 Mar;176(3):337-342. doi: 10.1007/s00431-016-2843-2. Epub 2017 Jan 9.

30.

Outbreak of Neisseria meningitidis capsular group W among scouts returning from the World Scout Jamboree, Japan, 2015.

Smith-Palmer A, Oates K, Webster D, Taylor S, Scott KJ, Smith G, Parcell B, Lindstrand A, Wallensten A, Fredlund H, Widerström M, McMenamin J; IMT and investigation team in Sweden.

Euro Surveill. 2016 Nov 10;21(45). pii: 30392. doi: 10.2807/1560-7917.ES.2016.21.45.30392.

31.

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.

32.

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.

33.

Pneumococcal Carriage in Children under Five Years in Uganda-Will Present Pneumococcal Conjugate Vaccines Be Appropriate?

Lindstrand A, Kalyango J, Alfvén T, Darenberg J, Kadobera D, Bwanga F, Peterson S, Henriques-Normark B, Källander K.

PLoS One. 2016 Nov 9;11(11):e0166018. doi: 10.1371/journal.pone.0166018. eCollection 2016.

34.

Most preschool children hospitalised for acute rhinosinusitis had orbital complications, more common in the youngest and among boys.

Schollin Ask L, Hultman Dennison S, Stjärne P, Granath A, Srivastava S, Eriksson M, Lindstrand A, Ryd Rinder M.

Acta Paediatr. 2017 Feb;106(2):268-273. doi: 10.1111/apa.13650. Epub 2016 Nov 24.

PMID:
27797408
35.

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.

36.

Preoperative Anxiety and Depression Correlate With Dissatisfaction After Total Knee Arthroplasty: A Prospective Longitudinal Cohort Study of 186 Patients, With 4-Year Follow-Up.

Ali A, Lindstrand A, Sundberg M, Flivik G.

J Arthroplasty. 2017 Mar;32(3):767-770. doi: 10.1016/j.arth.2016.08.033. Epub 2016 Sep 3.

PMID:
27692782
37.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N.

Am J Hum Genet. 2016 Aug 4;99(2):318-36. doi: 10.1016/j.ajhg.2015.04.023.

38.

Unaltered pneumococcal carriage prevalence due to expansion of non-vaccine types of low invasive potential 8years after vaccine introduction in Stockholm, Sweden.

Lindstrand A, Galanis I, Darenberg J, Morfeldt E, Naucler P, Blennow M, Alfvén T, Henriques-Normark B, Örtqvist Å.

Vaccine. 2016 Aug 31;34(38):4565-4571. doi: 10.1016/j.vaccine.2016.07.031. Epub 2016 Jul 26.

39.

Similar patient-reported outcomes and performance after total knee arthroplasty with or without patellar resurfacing.

Ali A, Lindstrand A, Nilsdotter A, Sundberg M.

Acta Orthop. 2016 Jun;87(3):274-9. doi: 10.3109/17453674.2016.1170548.

40.

Replik: - Rekommendationer om bättre skydd mot kikhosta på väg.

Lindstrand A.

Lakartidningen. 2016 Mar 31;113. pii: DZDM. Swedish. No abstract available.

41.

Effects of PCV7 and PCV13 on invasive pneumococcal disease and carriage in Stockholm, Sweden.

Galanis I, Lindstrand A, Darenberg J, Browall S, Nannapaneni P, Sjöström K, Morfeldt E, Naucler P, Blennow M, Örtqvist Å, Henriques-Normark B.

Eur Respir J. 2016 Apr;47(4):1208-18. doi: 10.1183/13993003.01451-2015. Epub 2016 Jan 21.

42.

Ten-year results of physical activity after high tibial osteotomy in patients with knee osteoarthritis.

W-Dahl A, Toksvig-Larsen S, Lindstrand A.

Knee Surg Sports Traumatol Arthrosc. 2017 Mar;25(3):902-909. doi: 10.1007/s00167-015-3693-6. Epub 2015 Jul 14.

PMID:
26170187
43.

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.

Viljakainen H, Andersson-Assarsson JC, Armenio M, Pekkinen M, Pettersson M, Valta H, Lipsanen-Nyman M, Mäkitie O, Lindstrand A.

PLoS One. 2015 Jul 1;10(7):e0131883. doi: 10.1371/journal.pone.0131883. eCollection 2015.

44.

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, Draaken M, Holmdahl G, Barker G, Reutter H, Vukojević V, Clementson Kockum C, Lundin J, Lindstrand A, Nordenskjöld A.

Hum Mol Genet. 2015 Sep 15;24(18):5069-78. doi: 10.1093/hmg/ddv225. Epub 2015 Jun 23.

PMID:
26105184
45.

Respiratory viruses associated with community-acquired pneumonia in children: matched case-control study.

Rhedin S, Lindstrand A, Hjelmgren A, Ryd-Rinder M, Öhrmalm L, Tolfvenstam T, Örtqvist Å, Rotzén-Östlund M, Zweygberg-Wirgart B, Henriques-Normark B, Broliden K, Naucler P.

Thorax. 2015 Sep;70(9):847-53. doi: 10.1136/thoraxjnl-2015-206933. Epub 2015 Jun 15.

PMID:
26077969
46.

Immunogenicity and Safety of a Trivalent Inactivated Influenza Vaccine in Children 6 Months to 17 Years of Age, Previously Vaccinated with an AS03-Adjuvanted A(H1N1)Pdm09 Vaccine: Two Open-label, Randomized Trials.

Vesikari T, Richardus JH, Berglund J, Korhonen T, Flodmark CE, Lindstrand A, Silfverdal SA, Bambure V, Caplanusi A, Dieussaert I, Roy-Ghanta S, Vaughn DW.

Pediatr Infect Dis J. 2015 Jul;34(7):774-82. doi: 10.1097/INF.0000000000000709.

PMID:
26069949
47.

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.

48.

Commentary to: Guide to tailoring immunization programmes in the WHO European Region.

Van Damme P, Lindstrand A, Kulane A, Kunchev A.

Vaccine. 2015 Aug 26;33(36):4385-6. doi: 10.1016/j.vaccine.2015.04.032. Epub 2015 Apr 23. No abstract available.

PMID:
25913829
49.

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.

50.

CTNND2-a candidate gene for reading problems and mild intellectual disability.

Hofmeister W, Nilsson D, Topa A, Anderlid BM, Darki F, Matsson H, Tapia Páez I, Klingberg T, Samuelsson L, Wirta V, Vezzi F, Kere J, Nordenskjöld M, Syk Lundberg E, Lindstrand A.

J Med Genet. 2015 Feb;52(2):111-22. doi: 10.1136/jmedgenet-2014-102757. Epub 2014 Dec 3.

PMID:
25473103

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