Niedziela M - Search Results

1

Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.

Sabbaghian N, Srivastava A, Hamel N, Plourde F, Gajtko-Metera M, Niedziela M, Foulkes WD. Sabbaghian N, et al. Among authors: niedziela m. Eur J Hum Genet. 2014 Apr;22(4):564-7. doi: 10.1038/ejhg.2013.215. Epub 2013 Sep 25. Eur J Hum Genet. 2014. PMID: 24065110 Free PMC article.

2

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M. Rio Frio T, et al. Among authors: niedziela m. JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910. JAMA. 2011. PMID: 21205968 Free PMC article.

3

Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations.

de Kock L, Boshari T, Martinelli F, Wojcik E, Niedziela M, Foulkes WD. de Kock L, et al. Among authors: niedziela m. J Low Genit Tract Dis. 2016 Jan;20(1):e8-e10. doi: 10.1097/LGT.0000000000000149. J Low Genit Tract Dis. 2016. PMID: 26461232 No abstract available.

4

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.

van der Tuin K, de Kock L, Kamping EJ, Hannema SE, Pouwels MM, Niedziela M, van Wezel T, Hes FJ, Jongmans MC, Foulkes WD, Morreau H. van der Tuin K, et al. Among authors: niedziela m. J Clin Endocrinol Metab. 2019 Feb 1;104(2):277-284. doi: 10.1210/jc.2018-00774. J Clin Endocrinol Metab. 2019. PMID: 30260442

5

Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome.

Niedziela M, Sabbaghian N, de Kock L, Foulkes WD. Niedziela M, et al. Eur Thyroid J. 2021 Jun;10(3):257-261. doi: 10.1159/000510004. Epub 2020 Nov 4. Eur Thyroid J. 2021. PMID: 34178712 Free PMC article.

6

Ultrasound features of multinodular goiter in DICER1 syndrome.

Niedziela M, Muchantef K, Foulkes WD. Niedziela M, et al. Sci Rep. 2022 Sep 23;12(1):15888. doi: 10.1038/s41598-022-19709-0. Sci Rep. 2022. PMID: 36151231 Free PMC article.

7

Intrathyroid Thymic Tissue in Children with DICER1 Syndrome.

Niedziela M, Foulkes WD. Niedziela M, et al. Radiology. 2024 May;311(2):e233544. doi: 10.1148/radiol.233544. Radiology. 2024. PMID: 38713021 No abstract available.

8

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T. Jamsheer A, et al. Among authors: niedziela m. J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030147

9

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.

Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M; FIPA Consortium. Marques P, et al. J Clin Endocrinol Metab. 2020 Jun 1;105(6):e2247-60. doi: 10.1210/clinem/dgaa040. J Clin Endocrinol Metab. 2020. PMID: 31996917 Free PMC article.

10

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.

Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Among authors: niedziela m. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393

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