Heuertz S - Search Results

1

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.

Gonzales M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J. Gonzales M, et al. Among authors: heuertz s. Clin Genet. 2005 Aug;68(2):179-81. doi: 10.1111/j.1399-0004.2005.00477.x. Clin Genet. 2005. PMID: 15996217 No abstract available.

2

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J. Lajeunie E, et al. Among authors: heuertz s. Eur J Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558. Eur J Hum Genet. 2006. PMID: 16418739 Free article.

3

Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.

Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N. Krahn M, et al. Among authors: heuertz s. Clin Genet. 2005 Dec;68(6):558-60. doi: 10.1111/j.1399-0004.2005.00531.x. Clin Genet. 2005. PMID: 16283889 No abstract available.

4

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J. Heuertz S, et al. Eur J Hum Genet. 2006 Dec;14(12):1240-7. doi: 10.1038/sj.ejhg.5201700. Epub 2006 Aug 16. Eur J Hum Genet. 2006. PMID: 16912704

5

Thanatophoric dysplasia caused by double missense FGFR3 mutations.

Pannier S, Martinovic J, Heuertz S, Delezoide AL, Munnich A, Schibler L, Serre V, Legeai-Mallet L. Pannier S, et al. Among authors: heuertz s. Am J Med Genet A. 2009 Jun;149A(6):1296-301. doi: 10.1002/ajmg.a.32880. Am J Med Genet A. 2009. PMID: 19449430

6

Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).

Heuertz S, Smahi A, Wilkie AO, Le Merrer M, Maroteaux P, Hors-Cayla MC. Heuertz S, et al. Hum Genet. 1995 Oct;96(4):407-10. doi: 10.1007/BF00191797. Hum Genet. 1995. PMID: 7557961

7

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Rio M, et al. Among authors: heuertz s. J Med Genet. 2002 Apr;39(4):266-70. doi: 10.1136/jmg.39.4.266. J Med Genet. 2002. PMID: 11950856 Free PMC article.

8

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: heuertz s. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.

9

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A. Colleaux L, et al. Among authors: heuertz s. Eur J Hum Genet. 2001 May;9(5):319-27. doi: 10.1038/sj.ejhg.5200591. Eur J Hum Genet. 2001. PMID: 11378819

10

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.

Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE. Fiedler J, et al. Among authors: heuertz s. Hum Mutat. 2004 Jul;24(1):103. doi: 10.1002/humu.9254. Hum Mutat. 2004. PMID: 15221797

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