PubMed for id: 1840905

Year	Number of Results
1994	1
1998	1
1999	2
2000	1
2006	1
2007	1
2010	2
2012	1
2013	1
2014	2
2016	1
2019	1
2020	1
2021	2
2022	1
2024	0

1

[Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene].

Zhu R, Wang Q, Ling Y. Zhu R, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Oct 10;39(10):1135-1139. doi: 10.3760/cma.j.cn511374-20210928-00784. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36184099 Chinese.

2

Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA. Echaniz-Laguna A, et al. Neurogenetics. 2021 Oct;22(4):333-341. doi: 10.1007/s10048-021-00668-z. Epub 2021 Aug 17. Neurogenetics. 2021. PMID: 34405299

3

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S, Nardella G, Castellana S, Micale L, Copetti M, Fusco C, Castori M. Morlino S, et al. Am J Med Genet A. 2021 Mar;185(3):955-965. doi: 10.1002/ajmg.a.62047. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369135 Review.

4

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.

Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM. Brown M, et al. Mol Genet Genomic Med. 2019 May;7(5):e629. doi: 10.1002/mgg3.629. Epub 2019 Mar 4. Mol Genet Genomic Med. 2019. PMID: 30829465 Free PMC article.

5

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.

Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C. Smogavec M, et al. J Med Genet. 2016 Dec;53(12):820-827. doi: 10.1136/jmedgenet-2016-103880. Epub 2016 Jul 20. J Med Genet. 2016. PMID: 27439707

6

Clinical whole exome sequencing in child neurology practice.

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622

7

A novel GBA2 gene missense mutation in spastic ataxia.

Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K. Votsi C, et al. Ann Hum Genet. 2014 Jan;78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20. Ann Hum Genet. 2014. PMID: 24252062

8

First case report of short-chain acyl-CoA dehydrogenase deficiency in China.

Jiang M, Liu L, Peng M, Liang C, Sheng H, Cai Y. Jiang M, et al. J Pediatr Endocrinol Metab. 2012;25(7-8):795-7. doi: 10.1515/jpem-2012-0185. J Pediatr Endocrinol Metab. 2012. PMID: 23155713 Free article.

9

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. Alazami AM, et al. Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x. Clin Genet. 2010. PMID: 20507343

10

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW. Rafiq MA, et al. Clin Genet. 2010 Nov;78(5):478-83. doi: 10.1111/j.1399-0004.2010.01405.x. Clin Genet. 2010. PMID: 20345473

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