PubMed for id: 140931

Year	Number of Results
1981	1
1984	2
1991	1
1995	1
1997	1
1998	1
2003	2
2004	1
2005	1
2006	1
2007	1
2008	1
2009	3
2010	3
2011	2
2012	1
2013	3
2014	4
2015	2
2016	3
2017	2
2018	1
2019	2
2020	1
2021	4
2022	2
2024	0

1

Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.

Schwarz M, Ryba L, Křepelová A, Moslerová V, Zelinová M, Turnovec M, Martinková J, Kratochvílová L, Drahanský M, Macek M Jr, Havlovicová M. Schwarz M, et al. Am J Med Genet A. 2022 Apr;188(4):1083-1087. doi: 10.1002/ajmg.a.62616. Epub 2021 Dec 14. Am J Med Genet A. 2022. PMID: 34907639

2

Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

Friedrich RE. Friedrich RE. In Vivo. 2021 May-Jun;35(3):1583-1594. doi: 10.21873/invivo.12415. In Vivo. 2021. PMID: 33910840 Free PMC article.

3

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.

Aubert Mucca M, Patat O, Whalen S, Arnaud L, Barcia G, Buratti J, Cogné B, Doummar D, Karsenty C, Kenis S, Leguern E, Lesca G, Nava C, Nizon M, Piton A, Valence S, Villard L, Weckhuysen S, Keren B, Mignot C. Aubert Mucca M, et al. J Med Genet. 2022 May;59(5):505-510. doi: 10.1136/jmedgenet-2020-107511. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811134

4

Craniofacial phenotypes associated with Robinow syndrome.

Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS. Conlon CJ, et al. Am J Med Genet A. 2021 Dec;185(12):3606-3612. doi: 10.1002/ajmg.a.61986. Epub 2020 Nov 25. Am J Med Genet A. 2021. PMID: 33237614

5

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

Fan L, Ren X, Song Y, Su C, Fu J, Gong C. Fan L, et al. Orphanet J Rare Dis. 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. Orphanet J Rare Dis. 2019. PMID: 31888681 Free PMC article.

6

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

Diets IJ, Prescott T, Champaigne NL, Mancini GMS, Krossnes B, Frič R, Kocsis K, Jongmans MCJ, Kleefstra T. Diets IJ, et al. Genet Med. 2019 Mar;21(3):572-579. doi: 10.1038/s41436-018-0079-4. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907796 Free article.

7

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Inoue SI, Takahara S, Yoshikawa T, Niihori T, Yanai K, Matsubara Y, Aoki Y. Inoue SI, et al. Hum Mol Genet. 2017 Dec 1;26(23):4715-4727. doi: 10.1093/hmg/ddx354. Hum Mol Genet. 2017. PMID: 28973166

8

FGF and EDA pathways control initiation and branching of distinct subsets of developing nasal glands.

May AJ, Headon D, Rice DP, Noble A, Tucker AS. May AJ, et al. Dev Biol. 2016 Nov 15;419(2):348-356. doi: 10.1016/j.ydbio.2016.08.030. Epub 2016 Aug 30. Dev Biol. 2016. PMID: 27590203 Free PMC article.

9

New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.

Ria P, Fabris A, Dalla Gassa A, Zaza G, Lupo A, Gambaro G. Ria P, et al. Urolithiasis. 2017 Aug;45(4):359-362. doi: 10.1007/s00240-016-0913-6. Epub 2016 Aug 29. Urolithiasis. 2017. PMID: 27573101

10

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A. Nemcikova M, et al. Eur J Pediatr. 2016 Apr;175(4):587-92. doi: 10.1007/s00431-015-2658-6. Epub 2015 Oct 31. Eur J Pediatr. 2016. PMID: 26518681 Review.

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

Results by year

Text availability

Article attribute

Article type

Publication date

36 results

Results by year