PubMed for id: 387953

Year	Number of Results
1976	2
1977	1
1979	1
1981	1
1983	2
1984	2
1987	1
1988	2
1990	2
1992	2
1993	1
1994	1
1997	2
1999	1
2000	1
2003	3
2004	2
2005	2
2007	3
2008	3
2009	1
2010	1
2011	3
2012	3
2013	3
2014	5
2015	6
2016	3
2017	3
2018	3
2019	1
2020	1
2024	0

1

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K. Dangiolo SB, et al. Am J Med Genet A. 2015 Dec;167A(12):3161-6. doi: 10.1002/ajmg.a.37342. Epub 2015 Sep 14. Am J Med Genet A. 2015. PMID: 26364555 Review.

2

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592

3

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication.

Horbinski C, Carter EM, Heard PL, Sathanoori M, Hu J, Vockley J, Gunn S, Hale DE, Surti U, Cody JD. Horbinski C, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2898-904. doi: 10.1002/ajmg.a.32557. Am J Med Genet A. 2008. PMID: 18932219 Free PMC article.

4

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A. Papa FT, et al. Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413. Am J Med Genet A. 2008. PMID: 18627055

5

Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.

Tüysüz B, Demirel A, Uysal S, Beyer V, Bartsch O. Tüysüz B, et al. Genet Couns. 2008;19(1):29-35. Genet Couns. 2008. PMID: 18564498

6

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

Souraty N, Sanlaville D, Chédid R, Le Lorc'h M, Maurin ML, Ghanem L, Maalouf S, Vekemans M, Mégarbané A. Souraty N, et al. Eur J Med Genet. 2007 Sep-Oct;50(5):379-85. doi: 10.1016/j.ejmg.2007.06.001. Epub 2007 Jul 17. Eur J Med Genet. 2007. PMID: 17716964

7

Infantile high myopia in Bohring-Opitz syndrome.

Simpson AR, Gibbon CE, Quinn AG, Turnpenny PD. Simpson AR, et al. J AAPOS. 2007 Oct;11(5):524-5. doi: 10.1016/j.jaapos.2007.03.003. Epub 2007 May 10. J AAPOS. 2007. PMID: 17498985

8

Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?

Mégarbané A, Rassi S, Estephan F, Kouba-Hreich E. Mégarbané A, et al. Am J Med Genet A. 2004 Feb 15;125A(1):57-60. doi: 10.1002/ajmg.a.20433. Am J Med Genet A. 2004. PMID: 14755467

9

A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study.

Dubé P, Der Kaloustian VM, Demczuk S, Saabti H, Koenekoop RK. Dubé P, et al. Ophthalmic Genet. 2000 Dec;21(4):211-6. Ophthalmic Genet. 2000. PMID: 11135491

10

De novo duplication of the 7q11 leads to q22 region.

Kardon NB, Pollack L, Davis J, Broekman A, Krauss M. Kardon NB, et al. J Med Genet. 1983 Dec;20(6):471-3. doi: 10.1136/jmg.20.6.471. J Med Genet. 1983. PMID: 6655677 Free PMC article.

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