Gustavsson P - Search Results

1

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Gustavsson P, Schoumans J, Staaf J, Borg A, Nordenskjöld M, Annerén G. Gustavsson P, et al. Eur J Med Genet. 2007 May-Jun;50(3):237-41. doi: 10.1016/j.ejmg.2007.01.004. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17387046

2

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E. Lindstrand A, et al. Among authors: gustavsson p. Clin Genet. 2010 Jun;77(6):552-62. doi: 10.1111/j.1399-0004.2009.01341.x. Epub 2010 Mar 4. Clin Genet. 2010. PMID: 20236111

3

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.

Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, Fernell E, Gillberg C, Nordgren A, Uppströmer A, Anderlid BM, Nordenskjöld M, Schoumans J. Bremer A, et al. Among authors: gustavsson p. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):115-24. doi: 10.1002/ajmg.b.31142. Epub 2010 Dec 8. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302340

4

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. Lindstrand A, et al. Among authors: gustavsson p. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977

5

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

Gustavsson P, Kimber E, Wahlström J, Annerén G. Gustavsson P, et al. Am J Med Genet. 1999 Feb 12;82(4):348-51. Am J Med Genet. 1999. PMID: 10051171

6

Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.

Gustavsson P, Schoumans J, Staaf J, Jönsson G, Carlsson F, Kristoffersson U, Borg A, Nordenskjöld M, Dahl N. Gustavsson P, et al. Clin Genet. 2006 May;69(5):441-3. doi: 10.1111/j.1399-0004.2006.00601.x. Clin Genet. 2006. PMID: 16650085 No abstract available.

7

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.

Ahlbom BE, Yaqoob M, Gustavsson P, Abbas HG, Annerén G, Larsson A, Wadelius C. Ahlbom BE, et al. Among authors: gustavsson p. Hum Genet. 2002 Feb;110(2):145-7. doi: 10.1007/s00439-002-0680-z. Epub 2002 Jan 29. Hum Genet. 2002. PMID: 11935320

8

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

Winberg J, Gustavsson P, Papadogiannakis N, Sahlin E, Bradley F, Nordenskjöld E, Svensson PJ, Annerén G, Iwarsson E, Nordgren A, Nordenskjöld A. Winberg J, et al. Among authors: gustavsson p. PLoS One. 2014 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313. eCollection 2014. PLoS One. 2014. PMID: 24416387 Free PMC article.

9

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia.

Tentler D, Gustavsson P, Leisti J, Schueler M, Chelly J, Timonen E, Annerén G, Willard HF, Dahl N. Tentler D, et al. Among authors: gustavsson p. Eur J Hum Genet. 1999 Jul;7(5):541-8. doi: 10.1038/sj.ejhg.5200320. Eur J Hum Genet. 1999. PMID: 10439959

10

Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.

Sahlin E, Gustavsson P, Liedén A, Papadogiannakis N, Bjäreborn L, Pettersson K, Nordenskjöld M, Iwarsson E. Sahlin E, et al. Among authors: gustavsson p. Fetal Diagn Ther. 2014;36(4):326-32. doi: 10.1159/000361017. Epub 2014 Jul 19. Fetal Diagn Ther. 2014. PMID: 25059832

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