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Items: 12

1.

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD.

Am J Hum Genet. 2004 Jul;75(1):122-7. Epub 2004 May 12.

2.

Clinical variability of genetic isolates of Cohen syndrome.

Douzgou S, Petersen MB.

Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7. Review.

PMID:
21418059
3.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.

Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Review.

4.

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L.

Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245. Review.

PMID:
20140962
5.

[Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].

Arroyo-Carrera I, de Zaldívar-Tristancho MS, Martín-Fernández R, Hernández-Martín R, López-Lafuente A, Rodríguez-Revenga L.

Rev Neurol. 2015 May 16;60(10):453-6. Review. Spanish.

6.

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F.

Am J Med Genet A. 2005 Aug 30;137(2):204-7. Review.

PMID:
16059936
7.

A clinical study of Sotos syndrome patients with review of the literature.

Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, Fryssira H.

Pediatr Neurol. 2009 May;40(5):357-64. doi: 10.1016/j.pediatrneurol.2008.11.013. Review.

PMID:
19380072
8.

6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.

Nakane T, Kousuke N, Sonoko H, Yuko K, Sato H, Kubota T, Sugita K.

Pediatr Int. 2013 Jun;55(3):376-81. doi: 10.1111/j.1442-200X.2012.03729.x. Review.

PMID:
23782370
9.

Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.

Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP.

Dermatology. 2011;223(4):306-10. doi: 10.1159/000335609. Epub 2012 Feb 7. Review.

PMID:
22327602
10.

Pattern of p63 mutations and their phenotypes--update.

Rinne T, Hamel B, van Bokhoven H, Brunner HG.

Am J Med Genet A. 2006 Jul 1;140(13):1396-406. Review.

PMID:
16691622
11.

3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients.

Dimitrov BI, Ogilvie C, Wieczorek D, Wakeling E, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Josifova D.

Am J Med Genet A. 2015 Jun;167(6):1223-30. doi: 10.1002/ajmg.a.36556. Epub 2015 Apr 22. Review.

PMID:
25908055

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