Holmberg E - Search Results

1

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. Orlén H, et al. Among authors: holmberg e. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194956

2

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

Entesarian M, Carlsson B, Mansouri MR, Stattin EL, Holmberg E, Golovleva I, Stefansson H, Klar J, Dahl N. Entesarian M, et al. Among authors: holmberg e. Am J Med Genet A. 2009 Mar;149A(3):380-6. doi: 10.1002/ajmg.a.32663. Am J Med Genet A. 2009. PMID: 19213037

3

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

Kyllerman M, Rosengren L, Wiklund LM, Holmberg E. Kyllerman M, et al. Among authors: holmberg e. Neuropediatrics. 2005 Oct;36(5):319-23. doi: 10.1055/s-2005-872876. Neuropediatrics. 2005. PMID: 16217707

4

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M. Schoumans J, et al. Among authors: holmberg e. J Med Genet. 2005 Sep;42(9):699-705. doi: 10.1136/jmg.2004.029637. J Med Genet. 2005. PMID: 16141005 Free PMC article.

5

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Arkblad EL, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, Holmberg E, Tulinius M, Nordling M. Arkblad EL, et al. Among authors: holmberg e. Neuromuscul Disord. 2006 Dec;16(12):830-8. doi: 10.1016/j.nmd.2006.08.011. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17049859

6

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML. Nyström AM, et al. Among authors: holmberg e. J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456719

7

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

Håkansson S, Johannsson O, Johansson U, Sellberg G, Loman N, Gerdes AM, Holmberg E, Dahl N, Pandis N, Kristoffersson U, Olsson H, Borg A. Håkansson S, et al. Among authors: holmberg e. Am J Hum Genet. 1997 May;60(5):1068-78. Am J Hum Genet. 1997. PMID: 9150154 Free PMC article.

8

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E. Tulinius M, et al. Among authors: holmberg e. Eur J Pediatr. 2005 Feb;164(2):99-103. doi: 10.1007/s00431-004-1570-2. Epub 2004 Nov 19. Eur J Pediatr. 2005. PMID: 15558317

9

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Alders M, et al. Among authors: holmberg ee. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Nat Genet. 2009. PMID: 19935664

10

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.

Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J. Wincent J, et al. Among authors: holmberg e. Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445044

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