Nordenskjöld A - Search Results

1

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

Fadista J, Lund M, Skotte L, Geller F, Nandakumar P, Chatterjee S, Matsson H, Granström AL, Wester T, Salo P, Virtanen V, Carstensen L, Bybjerg-Grauholm J, Hougaard DM, Pakarinen M, Perola M, Nordenskjöld A, Chakravarti A, Melbye M, Feenstra B. Fadista J, et al. Among authors: nordenskjold a. Eur J Hum Genet. 2018 Apr;26(4):561-569. doi: 10.1038/s41431-017-0053-7. Epub 2018 Jan 29. Eur J Hum Genet. 2018. PMID: 29379196 Free PMC article.

2

Low frequency of RET mutations in Hirschsprung disease in Sweden.

Svensson PJ, Molander ML, Eng C, Anvret M, Nordenskjöld A. Svensson PJ, et al. Among authors: nordenskjold a. Clin Genet. 1998 Jul;54(1):39-44. doi: 10.1111/j.1399-0004.1998.tb03691.x. Clin Genet. 1998. PMID: 9727738

3

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).

Svensson PJ, Anvret M, Molander ML, Nordenskjöld A. Svensson PJ, et al. Among authors: nordenskjold a. Hum Genet. 1998 Aug;103(2):145-8. doi: 10.1007/s004390050797. Hum Genet. 1998. PMID: 9760196

4

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.

Mansouri MR, Carlsson B, Davey E, Nordenskjöld A, Wester T, Annerén G, Läckgren G, Dahl N. Mansouri MR, et al. Among authors: nordenskjold a. Hum Genet. 2006 Mar;119(1-2):162-8. doi: 10.1007/s00439-005-0122-9. Epub 2006 Jan 3. Hum Genet. 2006. PMID: 16395596

5

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1.

Thai HT, Söderhäll C, Lagerstedt K, Omrani MD, Frisén L, Lundin J, Kockum I, Nordenskjöld A. Thai HT, et al. Among authors: nordenskjold a. Hum Genet. 2008 Sep;124(2):155-60. doi: 10.1007/s00439-008-0533-5. Epub 2008 Jul 27. Hum Genet. 2008. PMID: 18661284

6

Maternal and gestational risk factors for hypospadias.

Akre O, Boyd HA, Ahlgren M, Wilbrand K, Westergaard T, Hjalgrim H, Nordenskjöld A, Ekbom A, Melbye M. Akre O, et al. Among authors: nordenskjold a. Environ Health Perspect. 2008 Aug;116(8):1071-6. doi: 10.1289/ehp.10791. Environ Health Perspect. 2008. PMID: 18709149 Free PMC article.

7

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis.

Lagerstedt-Robinson K, Svenningsson A, Nordenskjöld A. Lagerstedt-Robinson K, et al. Among authors: nordenskjold a. J Hum Genet. 2009 Dec;54(12):706-8. doi: 10.1038/jhg.2009.101. Epub 2009 Oct 23. J Hum Genet. 2009. PMID: 19851341

8

Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome.

Zu S, Winberg J, Arnberg F, Palmer G, Svensson PJ, Wester T, Nordenskjöld A. Zu S, et al. Among authors: nordenskjold a. J Pediatr Surg. 2011 Jul;46(7):1390-5. doi: 10.1016/j.jpedsurg.2011.02.039. J Pediatr Surg. 2011. PMID: 21763840

9

Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci.

Svenningsson A, Söderhäll C, Persson S, Lundberg F, Luthman H, Chung E, Gardiner M, Kockum I, Nordenskjöld A. Svenningsson A, et al. Among authors: nordenskjold a. J Hum Genet. 2012 Feb;57(2):115-21. doi: 10.1038/jhg.2011.137. Epub 2011 Dec 8. J Hum Genet. 2012. PMID: 22158425

10

Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype.

Markljung E, Adamovic T, Cao J, Naji H, Kaiser S, Wester T, Nordenskjöld A. Markljung E, et al. Among authors: nordenskjold a. Gene. 2012 Oct 1;507(1):50-3. doi: 10.1016/j.gene.2012.06.096. Epub 2012 Jul 20. Gene. 2012. PMID: 22820079

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