de Leeuw N - Search Results

1

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.

Correia-Costa GR, Dos Santos AM, de Leeuw N, Rigatto SZP, Belangero VMS, Steiner CE, Gil-da-Silva-Lopes VL, Vieira TP. Correia-Costa GR, et al. Among authors: de leeuw n. Genes (Basel). 2022 Dec 16;13(12):2377. doi: 10.3390/genes13122377. Genes (Basel). 2022. PMID: 36553645 Free PMC article. Review.

2

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.

Correia-Costa GR, de Leeuw N, Pfundt R, Sgardioli IC, Dos Santos AP, de Lima Santos M, Gil-da-Silva-Lopes VL, Vieira TP. Correia-Costa GR, et al. Among authors: de leeuw n, de lima santos m. Clin Genet. 2022 Dec;102(6):537-542. doi: 10.1111/cge.14215. Epub 2022 Sep 7. Clin Genet. 2022. PMID: 36029130

3

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, de Leeuw N, Qamar R, van Bokhoven H. Agha Z, et al. Among authors: de leeuw n. Gene. 2014 Mar 15;538(1):30-5. doi: 10.1016/j.gene.2014.01.027. Epub 2014 Jan 16. Gene. 2014. PMID: 24440292

4

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Benbouchta Y, De Leeuw N, Amasdl S, Sbiti A, Smeets D, Sadki K, Sefiani A. Benbouchta Y, et al. Among authors: de leeuw n. Ital J Pediatr. 2021 Sep 16;47(1):188. doi: 10.1186/s13052-021-01121-5. Ital J Pediatr. 2021. PMID: 34530895 Free PMC article.

5

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Pennings M, Meijer RPP, Gerrits M, Janssen J, Pfundt R, de Leeuw N, Gilissen C, Gardeitchik T, Schouten M, Voermans N, van de Warrenburg B, Kamsteeg EJ. Pennings M, et al. Among authors: de leeuw n. Eur J Hum Genet. 2023 Jun;31(6):654-662. doi: 10.1038/s41431-023-01312-0. Epub 2023 Feb 13. Eur J Hum Genet. 2023. PMID: 36781956 Free PMC article.

6

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.

Willemsen MH, de Leeuw N, Pfundt R, de Vries BB, Kleefstra T. Willemsen MH, et al. Among authors: de leeuw n, de vries bb. Eur J Med Genet. 2009 Mar-Jun;52(2-3):134-9. doi: 10.1016/j.ejmg.2009.03.003. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303465

7

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

van Trier DC, Feenstra I, Bot P, de Leeuw N, Draaisma JM. van Trier DC, et al. Among authors: de leeuw n. Eur J Med Genet. 2013 Aug;56(8):426-31. doi: 10.1016/j.ejmg.2013.05.002. Epub 2013 May 22. Eur J Med Genet. 2013. PMID: 23707655 Review.

8

Early presentation of cystic kidneys in a family with a homozygous INVS mutation.

Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Oud MM, et al. Among authors: de leeuw n. Am J Med Genet A. 2014 Jul;164A(7):1627-34. doi: 10.1002/ajmg.a.36501. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677454 Review.

9

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Brilstra EH, Dijkhuizen T, Vos YJ, van der Kevie-Kersemaekers AF, Knijnenburg J, de Leeuw N, van Minkelen R, Ruivenkamp CAL, Stegmann APA, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Among authors: de leeuw n. Eur J Med Genet. 2019 Apr;62(4):265-269. doi: 10.1016/j.ejmg.2018.08.002. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125676 Free article.

10

From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.

Harich B, Klein M, Ockeloen CW, van der Voet M, Schimmel-Naber M, de Leeuw N, Schenck A, Franke B. Harich B, et al. Among authors: de leeuw n. J Child Psychol Psychiatry. 2020 May;61(5):545-555. doi: 10.1111/jcpp.13161. Epub 2019 Dec 17. J Child Psychol Psychiatry. 2020. PMID: 31849056 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

365 results

Search Page