Similar articles for PMID: 27103078

Year	Number of Results
1992	1
1998	1
1999	1
2000	1
2003	1
2004	2
2005	1
2006	3
2008	2
2009	1
2010	1
2011	3
2012	4
2013	6
2014	9
2015	19
2016	18
2017	29
2018	28
2019	28
2020	43
2021	27
2022	8
2023	3
2024	0

1

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J. Bruel AL, et al. Clin Genet. 2017 Feb;91(2):333-338. doi: 10.1111/cge.12794. Epub 2016 Jun 5. Clin Genet. 2017. PMID: 27103078

2

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. Rad A, et al. J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28. J Med Genet. 2019. PMID: 30487245 Free PMC article.

3

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Valenzuela I, Codina M, Fernández-Álvarez P, Mur P, Valle L, Tizzano EF, Cuscó I. Valenzuela I, et al. Am J Med Genet A. 2020 Nov;182(11):2742-2745. doi: 10.1002/ajmg.a.61839. Epub 2020 Sep 8. Am J Med Genet A. 2020. PMID: 32896090

4

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R. Slezak R, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1432. doi: 10.1002/mgg3.1432. Epub 2020 Jul 24. Mol Genet Genomic Med. 2020. PMID: 32705777 Free PMC article.

5

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Koehler K, Schuelke M, Hell AK, Schittkowski M, Huebner A, Brockmann K. Koehler K, et al. Am J Med Genet A. 2020 Mar;182(3):570-575. doi: 10.1002/ajmg.a.61435. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825161

6

Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.

Evers C, Kaufmann L, Seitz A, Paramasivam N, Granzow M, Karch S, Fischer C, Hinderhofer K, Gdynia G, Elsässer M, Pinkert S, Schlesner M, Bartram CR, Moog U. Evers C, et al. Am J Med Genet A. 2016 Jun;170(6):1502-9. doi: 10.1002/ajmg.a.37632. Epub 2016 Mar 26. Am J Med Genet A. 2016. PMID: 27016154

7

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I. Moortgat S, et al. Eur J Med Genet. 2018 Aug;61(8):442-450. doi: 10.1016/j.ejmg.2018.03.002. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510240 Review.

8

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H. Prokudin I, et al. Clin Exp Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2. Clin Exp Ophthalmol. 2015. PMID: 25060287

9

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Zarate YA, et al. Clin Genet. 2017 Oct;92(4):423-429. doi: 10.1111/cge.12982. Epub 2017 Mar 7. Clin Genet. 2017. PMID: 28139846

10

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

Pons L, Sabatier I, Alix E, Faoucher M, Labalme A, Sanlaville D, Lesca G. Pons L, et al. Eur J Med Genet. 2020 Oct;63(10):103994. doi: 10.1016/j.ejmg.2020.103994. Epub 2020 Jul 22. Eur J Med Genet. 2020. PMID: 32707268

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