PubMed (OMIM) for id: 6091

Year	Number of Results
1998	3
2001	1
2002	3
2005	1
2006	1
2008	1
2009	1
2013	1
2017	3
2018	1
2019	2
2020	2
2021	1
2022	2
2024	0

1

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ. Huang Y, et al. Hum Mol Genet. 2022 Aug 23;31(16):2751-2765. doi: 10.1093/hmg/ddac070. Hum Mol Genet. 2022. PMID: 35348658 Free PMC article.

2

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J. Münch J, et al. Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26. Kidney Int. 2022. PMID: 35227688 Free PMC article.

3

Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1.

Woodring TS, Mirza MH, Benavides V, Ellsworth KA, Wright MS, Javed MJ, Ramiro S. Woodring TS, et al. Pediatrics. 2021 Jul;148(1):e2020019000. doi: 10.1542/peds.2020-019000. Epub 2021 Jun 30. Pediatrics. 2021. PMID: 34193621

4

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K. Brauner R, et al. PLoS One. 2020 Dec 3;15(12):e0242358. doi: 10.1371/journal.pone.0242358. eCollection 2020. PLoS One. 2020. PMID: 33270637 Free PMC article.

5

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome.

Liu Z, Chen X. Liu Z, et al. J Clin Res Pediatr Endocrinol. 2020 Jun 3;12(2):212-217. doi: 10.4274/jcrpe.galenos.2019.2018.0309. Epub 2019 Aug 26. J Clin Res Pediatr Endocrinol. 2020. PMID: 31448886 Free PMC article.

6

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Dateki S, Watanabe S, Mishima H, Shirakawa T, Morikawa M, Kinoshita E, Yoshiura KI, Moriuchi H. Dateki S, et al. J Hum Genet. 2019 Apr;64(4):341-346. doi: 10.1038/s10038-019-0566-8. Epub 2019 Jan 28. J Hum Genet. 2019. PMID: 30692597

7

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL. Rasmussen M, et al. Clin Genet. 2018 Apr;93(4):860-869. doi: 10.1111/cge.13185. Epub 2018 Feb 23. Clin Genet. 2018. PMID: 29194579

8

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.

Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524

9

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.

Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R. Bashamboo A, et al. J Clin Endocrinol Metab. 2017 Jul 1;102(7):2401-2406. doi: 10.1210/jc.2016-1095. J Clin Endocrinol Metab. 2017. PMID: 28402530

10

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

Calloni SF, Cohen JS, Meoded A, Juusola J, Triulzi FM, Huisman TAGM, Poretti A, Fatemi A. Calloni SF, et al. Pediatr Neurol. 2017 May;70:70-74. doi: 10.1016/j.pediatrneurol.2017.01.018. Epub 2017 Feb 2. Pediatr Neurol. 2017. PMID: 28286008

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