Holmberg E - Search Results

1

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

Schoumans J, Nordgren A, Ruivenkamp C, Brøndum-Nielsen K, Teh BT, Annéren G, Holmberg E, Nordenskjöld M, Anderlid BM. Schoumans J, et al. Among authors: holmberg e. Eur J Hum Genet. 2005 Feb;13(2):260-3. doi: 10.1038/sj.ejhg.5201309. Eur J Hum Genet. 2005. PMID: 15494738

2

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.

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. Kvarnung M, et al. Among authors: holmberg e. Clin Genet. 2018 Dec;94(6):528-537. doi: 10.1111/cge.13448. Epub 2018 Oct 15. Clin Genet. 2018. PMID: 30221345

4

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.

Blennow E, Nielsen KB, Telenius H, Carter NP, Kristoffersson U, Holmberg E, Gillberg C, Nordenskjöld M. Blennow E, et al. Among authors: holmberg e. Am J Med Genet. 1995 Jan 2;55(1):85-94. doi: 10.1002/ajmg.1320550122. Am J Med Genet. 1995. PMID: 7702104

5

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy.

Anderlid BM, Sahlén S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. Anderlid BM, et al. Among authors: holmberg e. Am J Med Genet. 2001 Mar 15;99(3):223-33. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1146>3.0.co;2-w. Am J Med Genet. 2001. PMID: 11241494

6

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.

Blennow E, Bui TH, Kristoffersson U, Vujic M, Annerén G, Holmberg E, Nordenskjöld M. Blennow E, et al. Among authors: holmberg e. Prenat Diagn. 1994 Nov;14(11):1019-28. doi: 10.1002/pd.1970141103. Prenat Diagn. 1994. PMID: 7877949

7

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

8

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

9

DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.

Liu T, Wahlberg S, Rubio C, Holmberg E, Grönberg H, Lindblom A. Liu T, et al. Among authors: holmberg e. Clin Genet. 1998 Feb;53(2):131-5. doi: 10.1111/j.1399-0004.1998.tb02660.x. Clin Genet. 1998. PMID: 9611074

10

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

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