26756138 16526920 18809020 24127256 15717285 23799581 14729841 15726498 19929093 29485808 18369644 15578585 28950416 15253055 - Search Results

Year	Number of Results
2004	2
2005	3
2006	1
2008	2
2009	1
2012	1
2013	2
2016	2
2017	1
2022	0

1

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.

Gomez-Ospina N, Bernstein JA. Gomez-Ospina N, et al. Am J Med Genet A. 2016 Apr;170A(4):870-80. doi: 10.1002/ajmg.a.37538. Epub 2016 Jan 12. Am J Med Genet A. 2016. PMID: 26756138

2

The genetic basis of the Pierre Robin Sequence.

Jakobsen LP, Knudsen MA, Lespinasse J, García Ayuso C, Ramos C, Fryns JP, Bugge M, Tommerup N. Jakobsen LP, et al. Cleft Palate Craniofac J. 2006 Mar;43(2):155-9. doi: 10.1597/05-008.1. Cleft Palate Craniofac J. 2006. PMID: 16526920 Review.

3

Disorders of segmentation of the neural tube: Chiari malformations.

Sarnat HB. Sarnat HB. Handb Clin Neurol. 2008;87:89-103. doi: 10.1016/S0072-9752(07)87006-0. Handb Clin Neurol. 2008. PMID: 18809020 No abstract available.

4

Developmental and genetic perspectives on Pierre Robin sequence.

Tan TY, Kilpatrick N, Farlie PG. Tan TY, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):295-305. doi: 10.1002/ajmg.c.31374. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127256 Review.

5

Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR. Hill-Harfe KL, et al. Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254. Am J Hum Genet. 2005. PMID: 15717285 Free PMC article.

6

Rare syndromes of the head and face-Pierre Robin sequence.

Tan TY, Farlie PG. Tan TY, et al. Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):369-77. doi: 10.1002/wdev.69. Epub 2012 May 14. Wiley Interdiscip Rev Dev Biol. 2013. PMID: 23799581

7

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation.

Jamshidi N, Macciocca I, Dargaville PA, Thomas P, Kilpatrick N, McKinlay Gardner RJ, Farlie PG. Jamshidi N, et al. J Med Genet. 2004 Jan;41(1):e1. doi: 10.1136/jmg.2003.010157. J Med Genet. 2004. PMID: 14729841 Free PMC article. No abstract available.

8

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Velagaleti GV, et al. Am J Hum Genet. 2005 Apr;76(4):652-62. doi: 10.1086/429252. Epub 2005 Feb 22. Am J Hum Genet. 2005. PMID: 15726498 Free PMC article.

9

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

Machida J, Félix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T. Machida J, et al. Cleft Palate Craniofac J. 2009 Sep;46(5):532-40. doi: 10.1597/08-047.1. Epub 2009 Feb 2. Cleft Palate Craniofac J. 2009. PMID: 19929093 Free PMC article.

10

Distal 13q monosomy and neural tube defects.

Lurie IW, Novikova IV, Tarletskaya OA, Lazarevich AA, Gromyko OA. Lurie IW, et al. Genet Couns. 2016;27(2):177-86. Genet Couns. 2016. PMID: 29485808

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