Lenski C[au] - Search Results

Year	Number of Results
1981	1
1982	6
1983	2
1984	2
1985	2
1986	1
1989	1
1999	1
2004	2
2005	1
2006	1
2007	1
2008	1
2009	1
2024	0

1

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Ramser J, et al. Among authors: lenski c. Am J Hum Genet. 2008 Jan;82(1):188-93. doi: 10.1016/j.ajhg.2007.09.009. Am J Hum Genet. 2008. PMID: 18179898 Free PMC article.

2

[Bitemporal hemianopsic scotoma].

Castier P, Lenski C, Jomin M, Evrard F. Castier P, et al. Among authors: lenski c. Bull Soc Ophtalmol Fr. 1982 Apr;82(4):615-7. Bull Soc Ophtalmol Fr. 1982. PMID: 7105362 French. No abstract available.

3

Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.

Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, Jedele KB, Gasteiger M, Lenski C, Murken J, Golla A. Holinski-Feder E, et al. Among authors: lenski c. Am J Med Genet. 1999 Sep 10;86(2):102-6. doi: 10.1002/(sici)1096-8628(19990910)86:2<102::aid-ajmg2>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10449641

4

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J. Lenski C, et al. Am J Hum Genet. 2007 Feb;80(2):372-7. doi: 10.1086/511527. Epub 2006 Dec 28. Am J Hum Genet. 2007. PMID: 17236142 Free PMC article.

5

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Lenski C, et al. Am J Hum Genet. 2004 Apr;74(4):777-80. doi: 10.1086/383205. Am J Hum Genet. 2004. PMID: 15024694 Free PMC article. No abstract available.

6

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G. Ramser J, et al. Among authors: lenski c. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3. Hum Mol Genet. 2005. PMID: 15746149

7

ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1).

Fremerey C, Wiebe B, Feyen O, Lenski C, Pohlmann U, Ehlen M, Schofer O, Meindl A, Niehues T, Bartmann P. Fremerey C, et al. Among authors: lenski c. Klin Padiatr. 2009 Sep;221(5):302-4. doi: 10.1055/s-0029-1192041. Epub 2009 Aug 25. Klin Padiatr. 2009. PMID: 19707993

8

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9).

Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF. Ramser J, et al. Among authors: lenski c. J Med Genet. 2004 Sep;41(9):679-83. doi: 10.1136/jmg.2004.019000. J Med Genet. 2004. PMID: 15342698 Free PMC article.

9

[Unusual aspects of mucocele].

Lenski C, Hochart G, Castier P. Lenski C, et al. Bull Soc Ophtalmol Fr. 1982 Oct;82(10):1259-61. Bull Soc Ophtalmol Fr. 1982. PMID: 7165918 French. No abstract available.

10

[Papillitis in Besnier-Boeck-Schaumann disease].

Castier P, Fallas P, Lenski C. Castier P, et al. Among authors: lenski c. Bull Soc Ophtalmol Fr. 1981 Aug-Sep;81(8-9):583-5. Bull Soc Ophtalmol Fr. 1981. PMID: 7318087 French. No abstract available.

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