PubMed (OMIM) for id: 57572

Year	Number of Results
1950	1
1988	1
1995	1
1998	1
1999	1
2000	2
2001	1
2002	1
2006	1
2007	3
2008	1
2009	1
2011	1
2013	1
2014	1
2015	1
2023	1
2024	0

1

Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.

Zaersabet M, Koochakkhani S, Sarmast Y, Salmani H. Zaersabet M, et al. Clin Dysmorphol. 2023 Apr 1;32(2):84-87. doi: 10.1097/MCD.0000000000000450. Epub 2023 Feb 2. Clin Dysmorphol. 2023. PMID: 36779775 No abstract available.

2

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. Sukalo M, et al. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Hum Mutat. 2015. PMID: 25824905

3

Mutations in NOTCH1 cause Adams-Oliver syndrome.

Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.

4

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. Am J Hum Genet. 2013. PMID: 23522784 Free PMC article.

5

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

6

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.

Balasubramanian M, Collins AL. Balasubramanian M, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):234-8. doi: 10.1016/j.ejmg.2009.04.005. Epub 2009 May 4. Eur J Med Genet. 2009. PMID: 19416763 Review.

7

Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant.

McGoey RR, Lacassie Y. McGoey RR, et al. Am J Med Genet A. 2008 Feb 15;146A(4):488-91. doi: 10.1002/ajmg.a.32163. Am J Med Genet A. 2008. PMID: 18203152 Review.

8

Adams-Oliver syndrome: further evidence of an autosomal recessive variant.

Temtamy SA, Aglan MS, Ashour AM, Zaki MS. Temtamy SA, et al. Clin Dysmorphol. 2007 Jul;16(3):141-149. doi: 10.1097/MCD.0b013e3280f9df22. Clin Dysmorphol. 2007. PMID: 17551326

9

Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.

Miyamoto Y, Yamauchi J, Sanbe A, Tanoue A. Miyamoto Y, et al. Exp Cell Res. 2007 Feb 15;313(4):791-804. doi: 10.1016/j.yexcr.2006.11.017. Epub 2006 Dec 6. Exp Cell Res. 2007. PMID: 17196961

10

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

Prothero J, Nicholl R, Wilson J, Wakeling EL. Prothero J, et al. Clin Dysmorphol. 2007 Jan;16(1):39-41. doi: 10.1097/MCD.0b013e328010b81c. Clin Dysmorphol. 2007. PMID: 17159513

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