A citation-based method for searching scientific literature

H R Waterham, W Oostheim, G J Romeijn, R J Wanders, R C Hennekam. J Med Genet 2000
Times Cited: 10







List of co-cited articles
118 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
C A Wassif, C Maslen, S Kachilele-Linjewile, D Lin, L M Linck, W E Connor, R D Steiner, F D Porter. Am J Hum Genet 1998
305
100

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
B U Fitzky, M Witsch-Baumgartner, M Erdel, J N Lee, Y K Paik, H Glossmann, G Utermann, F F Moebius. Proc Natl Acad Sci U S A 1998
296
100

The Smith-Lemli-Opitz syndrome.
R I Kelley, R C Hennekam. J Med Genet 2000
332
100

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
M Witsch-Baumgartner, B U Fitzky, M Ogorelkova, H G Kraft, F F Moebius, H Glossmann, U Seedorf, G Gillessen-Kaesbach, G F Hoffmann, P Clayton,[...]. Am J Hum Genet 2000
145
100

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
H R Waterham, F A Wijburg, R C Hennekam, P Vreken, B T Poll-The, L Dorland, M Duran, P E Jira, J A Smeitink, R A Wevers,[...]. Am J Hum Genet 1998
219
90

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
D W SMITH, L LEMLI, J M OPITZ. J Pediatr 1964
544
90


Molecular cloning and expression of the human delta7-sterol reductase.
F F Moebius, B U Fitzky, J N Lee, Y K Paik, H Glossmann. Proc Natl Acad Sci U S A 1998
167
80

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
M Irons, E R Elias, G Salen, G S Tint, A K Batta. Lancet 1993
297
70

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
G S Tint, M Irons, E R Elias, A K Batta, R Frieden, T S Chen, G Salen. N Engl J Med 1994
631
70

Incidence of Smith-Lemli-Opitz syndrome in Slovakia.
V Bzdúch, D Behúlová, J Skodová. Am J Med Genet 2000
38
60


Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
D De Brasi, T Esposito, M Rossi, G Parenti, M P Sperandeo, A Zuppaldi, T Bardaro, M A Ambruzzi, L Zelante, A Ciccodicola,[...]. Eur J Hum Genet 1999
35
50

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
A K Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, R M Winter, J Burn. J Med Genet 1998
174
50

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome.
G S Tint, G Salen, A K Batta, S Shefer, M Irons, E R Elias, D N Abuelo, V P Johnson, M Lambert, R Lutz. J Pediatr 1995
114
50

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
H Yu, M H Lee, L Starck, E R Elias, M Irons, G Salen, S B Patel, G S Tint. Hum Mol Genet 2000
73
50

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.
M J Nowaczyk, D T Whelan, R E Hill. Am J Med Genet 1998
53
50

RSH (so-called Smith-Lemli-Opitz) syndrome.
J M Opitz. Curr Opin Pediatr 1999
54
50


Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
P E Jira, R J Wanders, J A Smeitink, J De Jong, R A Wevers, W Oostheim, J H Tuerlings, R C Hennekam, R C Sengers, H R Waterham. Ann Hum Genet 2001
27
50




Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
C Patrono, C Rizzo, A Tessa, A Giannotti, P Borrelli, R Carrozzo, F Piemonte, E Bertini, C Dionisi-Vici, F M Santorelli. Am J Med Genet 2000
17
40


Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
R L Kelley, E Roessler, R C Hennekam, G L Feldman, K Kosaki, M C Jones, J C Palumbos, M Muenke. Am J Med Genet 1996
167
40

Teratogen-mediated inhibition of target tissue response to Shh signaling.
M K Cooper, J A Porter, K E Young, P A Beachy. Science 1998
698
40

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
M Witsch-Baumgartner, E Ciara, J Löffler, H J Menzel, U Seedorf, J Burn, G Gillessen-Kaesbach, G F Hoffmann, B U Fitzky, H Mundy,[...]. Eur J Hum Genet 2001
50
40



Regulation of the mevalonate pathway.
J L Goldstein, M S Brown. Nature 1990
30

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome.
D B Dehart, L Lanoue, G S Tint, K K Sulik. Am J Med Genet 1997
54
30

Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
B U Fitzky, H Glossmann, G Utermann, F F Moebius. Curr Opin Lipidol 1999
26
30

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
J P Drenth, L Cuisset, G Grateau, C Vasseur, S D van de Velde-Visser, J G de Jong, J S Beckmann, J W van der Meer, M Delpech. Nat Genet 1999
391
30


Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
A J Anderson, M J Stephan, W O Walker, R I Kelley. Am J Med Genet 1998
37
30


A new autosomal recessive lethal chondrodystrophy with congenital hydrops.
C R Greenberg, D L Rimoin, H E Gruber, D J DeSa, M Reed, R S Lachman. Am J Med Genet 1988
59
30

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
S M Houten, W Kuis, M Duran, T J de Koning, A van Royen-Kerkhof, G J Romeijn, J Frenkel, L Dorland, M M de Barse, W A Huijbers,[...]. Nat Genet 1999
357
30



Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae.
S Silve, P H Dupuy, P Ferrara, G Loison. Biochim Biophys Acta 1998
99
30

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
S Shefer, G Salen, A K Batta, A Honda, G S Tint, M Irons, E R Elias, T C Chen, M F Holick. J Clin Invest 1995
123
30


Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
G Hoffmann, K M Gibson, I K Brandt, P I Bader, R S Wappner, L Sweetman. N Engl J Med 1986
137
30

Clinical phenotype of desmosterolosis.
D R FitzPatrick, J W Keeling, M J Evans, A E Kan, J E Bell, M E Porteous, K Mills, R M Winter, P T Clayton. Am J Med Genet 1998
133
30

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.
M G Bialer, V B Penchaszadeh, E Kahn, R Libes, G Krigsman, M L Lesser. Am J Med Genet 1987
69
30

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
C J Curry, J C Carey, J S Holland, D Chopra, R Fineman, M Golabi, S Sherman, R A Pagon, J Allanson, S Shulman. Am J Med Genet 1987
155
30

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
P A Krakowiak, N A Nwokoro, C A Wassif, K P Battaile, M J Nowaczyk, W E Connor, C Maslen, R D Steiner, F D Porter. Am J Med Genet 2000
50
30



Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.