Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 43

1.

Nosology and classification of genetic skeletal disorders: 2010 revision.

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A.

Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Review.

2.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
3.

Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.

De Backer J.

Verh K Acad Geneeskd Belg. 2009;71(6):335-71. Review.

PMID:
20232788
4.

Molecular-pathogenetic classification of genetic disorders of the skeleton.

Superti-Furga A, Bonafé L, Rimoin DL.

Am J Med Genet. 2001 Winter;106(4):282-93. Review.

PMID:
11891680
5.

The skeletal dysplasias: clinical-molecular correlations.

Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y.

Ann N Y Acad Sci. 2007 Nov;1117:302-9. Review.

PMID:
18056050
6.

A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J.

Orphanet J Rare Dis. 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. Review.

7.
8.

[Genetic basis for skeletal disease. Nosology and molecular classification of skeletal dysplasias].

Namba N.

Clin Calcium. 2010 Aug;20(8):1159-65. doi: CliCa100811591165. Review. Japanese.

PMID:
20675925
9.

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.

Cardenas-Rodriguez M, Badano JL.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):263-80. doi: 10.1002/ajmg.c.30227. Review.

PMID:
19876935
10.
11.

[Implications of the new etiophatogenic approach in the classification of constitutional and genetic bone diseases].

Morales Piga A, Alonso Ferreira V, Villaverde-Hueso A.

Reumatol Clin. 2011 Jul-Aug;7(4):248-54. doi: 10.1016/j.reuma.2010.11.008. Epub 2011 Feb 24. Review. Spanish.

12.

Genetic disorders associated with macrocephaly.

Williams CA, Dagli A, Battaglia A.

Am J Med Genet A. 2008 Aug 1;146A(15):2023-37. doi: 10.1002/ajmg.a.32434. Review.

PMID:
18629877
13.

Genetic diseases of bones and joints.

McCarthy EF.

Semin Diagn Pathol. 2011 Feb;28(1):26-36. Review.

PMID:
21675375
14.

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Betancur C.

Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review.

15.

Taxonomy of rare genetic metabolic bone disorders.

Masi L, Agnusdei D, Bilezikian J, Chappard D, Chapurlat R, Cianferotti L, Devolgelaer JP, El Maghraoui A, Ferrari S, Javaid MK, Kaufman JM, Liberman UA, Lyritis G, Miller P, Napoli N, Roldan E, Papapoulos S, Watts NB, Brandi ML.

Osteoporos Int. 2015 Oct;26(10):2529-58. doi: 10.1007/s00198-015-3188-9. Epub 2015 Jun 13. Erratum in: Osteoporos Int. 2015 Nov;26(11):2717-8.

PMID:
26070300
16.

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

Boyadjiev SA, Jabs EW.

Clin Genet. 2000 Apr;57(4):253-66. Review.

PMID:
10845565
17.

Molecular genetics of arrhythmias--a new paradigm.

Schulze-Bahr E, Haverkamp W, Borggrefe M, Wedekind H, Mönnig G, Mergenthaler J, Assmann G, Funke H, Breithardt G.

Z Kardiol. 2000;89 Suppl 4:IV12-22. Review.

PMID:
10810773
18.

The skeletal dysplasias.

Savarirayan R, Rimoin DL.

Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60. Review.

PMID:
12464233
19.

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet FO, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux AF, des Georges M, Béroud C, Claustres M.

Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1. Review. French.

PMID:
19954899
20.

Genetics of neuromuscular disorders.

Laing NG.

Crit Rev Clin Lab Sci. 2012 Mar-Apr;49(2):33-48. doi: 10.3109/10408363.2012.658906. Review.

PMID:
22468856

Supplemental Content

Support Center