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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
Hirschsprung disease is a congenital malformation, where absence of intramural ganglia in the hindgut results in a defect in the coordination of peristaltic movement. ...
Hirschsprung disease is a congenital malformation, where absence of intramural ganglia in the hindgut results in a defect in t …
Constitutional and somatic mutations in the WT1 gene in Wilms' tumor patients.
Nordenskjöld A, Friedman E, Sandstedt B, Söderhäll S, Anvret M. Nordenskjöld A, et al. Int J Cancer. 1995 Nov 15;63(4):516-22. doi: 10.1002/ijc.2910630410. Int J Cancer. 1995. PMID: 7591260
Only one of these has thus far been identified, the Wilms' tumor 1 (WT1) gene on 11p13, which functions as a tumor suppressor gene. ...Of the 12 cases with multiple tumors, 1 exhibited a constitutional 11p13 deletion and a somatic stop mutation in exon 4 of t …
Only one of these has thus far been identified, the Wilms' tumor 1 (WT1) gene on 11p13, which functions as a tumor suppressor gene. . …
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.
Frisén L, Lagerstedt K, Tapper-Persson M, Kockum I, Nordenskjöld A. Frisén L, et al. Among authors: nordenskjold a. J Med Genet. 2003 Apr;40(4):e49. doi: 10.1136/jmg.40.4.e49. J Med Genet. 2003. PMID: 12676922 Free PMC article. No abstract available.
Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.
Nordenskjöld A, Ivarsson SA. Nordenskjöld A, et al. J Clin Endocrinol Metab. 1998 Sep;83(9):3236-8. doi: 10.1210/jcem.83.9.5125. J Clin Endocrinol Metab. 1998. PMID: 9745434
The molecular background of 5 alpha-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and in which the affected males were fertile. ...
The molecular background of 5 alpha-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and …
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
Hirschsprung disease is a congenital malformation affecting 1 in 5000 live births. The absence of parasympathetic neuronal ganglia (Meissner, Auerbach) in the hindgut results in poor coordination of peristaltic movement, and a varying degree of constipation. ...We r …
Hirschsprung disease is a congenital malformation affecting 1 in 5000 live births. The absence of parasympathetic neuronal ganglia (M …
Polymorphisms of estrogen receptor beta gene are associated with hypospadias.
Beleza-Meireles A, Omrani D, Kockum I, Frisén L, Lagerstedt K, Nordenskjöld A. Beleza-Meireles A, et al. Among authors: nordenskjold a. J Endocrinol Invest. 2006 Jan;29(1):5-10. doi: 10.1007/BF03349170. J Endocrinol Invest. 2006. PMID: 16553027
INTRODUCTION: Hypospadias is a common male congenital urethral malformation, defined as the displacement of the urethral meatus ventrally from the tip of the glans penis. ...One of these patients also presented a 266_267insC in exon 1 of ESR2, which is also a
INTRODUCTION: Hypospadias is a common male congenital urethral malformation, defined as the displacement of the urethral meatus ventr …
No mutations found in candidate genes for dystocia.
Algovik M, Lagercrantz J, Westgren M, Nordenskjöld A. Algovik M, et al. Among authors: nordenskjold a. Hum Reprod. 1999 Oct;14(10):2451-4. doi: 10.1093/humrep/14.10.2451. Hum Reprod. 1999. PMID: 10527967 Clinical Trial.
Dystocia is a disorder characterized by prolonged or dysfunctional labour. Delivery that starts late or not at all, leads to an increased risk for Caesarean section, infant morbidity and mortality. ...No mutations were found, making it unlikely that any of these genes repr …
Dystocia is a disorder characterized by prolonged or dysfunctional labour. Delivery that starts late or not at all, leads to an incre …
A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease.
Svensson PJ, Von Tell D, Molander ML, Anvret M, Nordenskjöld A. Svensson PJ, et al. Among authors: nordenskjold a. Pediatr Res. 1999 May;45(5 Pt 1):714-7. doi: 10.1203/00006450-199905010-00018. Pediatr Res. 1999. PMID: 10231870
We report the results of single-stranded conformation polymorphism screening of the endothelin-3 gene in a Swedish population-based material of 66 sporadic and nine familial Hirschsprung's disease cases. We have found a novel heterozygous mutation in exon 2, c.262in …
We report the results of single-stranded conformation polymorphism screening of the endothelin-3 gene in a Swedish population-based m …
Screening for mutations in candidate genes for hypospadias.
Nordenskjöld A, Friedman E, Tapper-Persson M, Söderhäll C, Leviav A, Svensson J, Anvret M. Nordenskjöld A, et al. Urol Res. 1999;27(1):49-55. doi: 10.1007/s002400050088. Urol Res. 1999. PMID: 10092153
Hypospadias. a condition with a frontally placed urethral orifice on the penis, is the most common malformation in males. During fetal development several components are necessary for normal male genital development. Testosterone and dihydrotestosterone act via the …
Hypospadias. a condition with a frontally placed urethral orifice on the penis, is the most common malformation in males. Duri …
Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.
Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J. Nordenskjöld A, et al. Am J Med Genet. 1998 Nov 16;80(3):269-72. Am J Med Genet. 1998. PMID: 9843052
The molecular basis of a patient with 5alpha-reductase deficiency was investigated in this study. This disease is a rare form of male pseudohermaphroditism with virilization during puberty. The child was raised as a girl, but had a male gender identity …
The molecular basis of a patient with 5alpha-reductase deficiency was investigated in this study. This disease is a rare form …
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