Kwiatkowski DJ - Search Results

1

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.

Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. Klonowska K, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 2023 Jun 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002. Epub 2023 May 3. Am J Hum Genet. 2023. PMID: 37141891 Free PMC article.

2

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. Roberts PS, et al. Among authors: kwiatkowski dj. Hum Genet. 2002 Jul;111(1):96-101. doi: 10.1007/s00439-002-0738-y. Epub 2002 Jun 7. Hum Genet. 2002. PMID: 12136241

3

Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.

Jóźwiak S, Domańska-Pakieła D, Kwiatkowski DJ, Kotulska K. Jóźwiak S, et al. Among authors: kwiatkowski dj. J Child Neurol. 2005 Dec;20(12):988-9. doi: 10.1177/08830738050200121101. J Child Neurol. 2005. PMID: 16417848

4

Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.

Giannikou K, Martin KR, Abdel-Azim AG, Pamir KJ, Hougard TR, Bagwe S, Tang Y, MacKeigan JP, Kwiatkowski DJ, Henske EP, Lam HC. Giannikou K, et al. Among authors: kwiatkowski dj. Front Genet. 2023 Jan 30;13:917993. doi: 10.3389/fgene.2022.917993. eCollection 2022. Front Genet. 2023. PMID: 36793390 Free PMC article.

5

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Dabora SL, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 2002 Oct;71(4):750-8. doi: 10.1086/342718. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192641 Free PMC article.

6

Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.

Jóźwiak S, Kwiatkowski D, Kotulska K, Larysz-Brysz M, Lewin-Kowalik J, Grajkowska W, Roszkowski M. Jóźwiak S, et al. J Child Neurol. 2004 Feb;19(2):102-6. doi: 10.1177/08830738040190020401. J Child Neurol. 2004. PMID: 15072102

7

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ. Chan JA, et al. Among authors: kwiatkowski dj. J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42. doi: 10.1093/jnen/63.12.1236. J Neuropathol Exp Neurol. 2004. PMID: 15624760

8

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.

Jóźwiak S, Kotulska K, Kasprzyk-Obara J, Domańska-Pakieła D, Tomyn-Drabik M, Roberts P, Kwiatkowski D. Jóźwiak S, et al. Pediatrics. 2006 Oct;118(4):e1146-51. doi: 10.1542/peds.2006-0504. Epub 2006 Aug 28. Pediatrics. 2006. PMID: 16940165

9

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.

Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Among authors: kwiatkowski dj. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.

10

Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.

Hulshof HM, Slot EMH, Lequin M, Breuillard D, Boddaert N, Jozwiak S, Kotulska K, Riney K, Feucht M, Samueli S, Scholl T, Krsek P, Benova B, Braun KPJ, Jansen FE, Nabbout R; EPISTOP consortium. Hulshof HM, et al. J Pediatr. 2021 Jun;233:156-162.e2. doi: 10.1016/j.jpeds.2021.02.060. Epub 2021 Feb 26. J Pediatr. 2021. PMID: 33640330 Free article.

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