Similar articles for PMID: 24478002

Year	Number of Results
1975	1
1977	1
1978	1
1979	1
1985	1
1988	1
1991	1
1993	3
1995	2
1996	2
1997	1
1998	4
2000	1
2001	1
2002	2
2003	2
2005	1
2006	2
2007	4
2008	3
2009	3
2010	8
2011	5
2012	3
2013	11
2014	13
2015	6
2016	9
2017	7
2018	5
2019	3
2020	3
2021	4
2022	11
2023	3
2024	0

1

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Migliavacca MP, Sobreira NL, Antonialli GP, Oliveira MM, Melaragno MI, Casteels I, de Ravel T, Brunoni D, Valle D, Perez AB. Migliavacca MP, et al. Am J Med Genet A. 2014 May;164A(5):1170-4. doi: 10.1002/ajmg.a.36425. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478002 Free PMC article.

2

Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

Hildebrandt CC, Patel N, Graham JM Jr, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE; University of Washington Center for Mendelian Genomics; Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE. Hildebrandt CC, et al. Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783941

3

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS. Niederhoffer KY, et al. Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27375131

4

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.

5

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.

Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. Schweitzer DN, et al. Am J Med Genet A. 2003 Apr 30;118A(3):267-73. doi: 10.1002/ajmg.a.10143. Am J Med Genet A. 2003. PMID: 12673658

6

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

Al-Qattan MM, Andejani DF, Sakati NA, Ramzan K, Imtiaz F. Al-Qattan MM, et al. BMC Med Genet. 2018 Jan 30;19(1):18. doi: 10.1186/s12881-018-0531-y. BMC Med Genet. 2018. PMID: 29378527 Free PMC article.

7

Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.

Karaer D, Karaer K. Karaer D, et al. Am J Med Genet A. 2022 Jun;188(6):1881-1884. doi: 10.1002/ajmg.a.62707. Epub 2022 Feb 28. Am J Med Genet A. 2022. PMID: 35224863

8

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.

Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, Renieri A, Clerici D. Bedeschi MF, et al. Mol Syndromol. 2010;1(5):239-245. doi: 10.1159/000328135. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140376 Free PMC article.

9

Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face.

Phadke SR, Gulati R, Agarwal SS. Phadke SR, et al. Am J Med Genet. 1998 Apr 28;77(1):16-8. doi: 10.1002/(sici)1096-8628(19980428)77:1<16::aid-ajmg4>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9557887

10

Further delineation of the Van den Ende-Gupta syndrome.

Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T. Ali R, et al. Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725. Am J Med Genet A. 2010. PMID: 21108395

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

112 results

Results by year