A citation-based method for searching scientific literature

B Burwinkel, S Shiomi, A Al Zaben, M W Kilimann. Hum Mol Genet 1998
Times Cited: 45







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



Times Cited
  Times     Co-cited
Similarity




Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
B Burwinkel, A J Maichele, O Aagenaes, H D Bakker, A Lerner, Y S Shin, J A Strachan, M W Kilimann. Hum Mol Genet 1997
48
57

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
B Burwinkel, L Amat, R G Gray, N Matsuo, K Muroya, K Narisawa, R J Sokol, M A Vilaseca, M W Kilimann. Hum Genet 1998
46
55


Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
I E van den Berg, E A van Beurden, J B de Klerk, O P van Diggelen, H E Malingré, M M Boer, R Berger. Am J Hum Genet 1997
24
79


Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.
A F Kagalwalla, Y A Kagalwalla, S al Ajaji, W Gorka, M A Ali. J Pediatr 1995
20
75

Glycogen storage disease type IX: High variability in clinical phenotype.
Nicholas James Beauchamp, Ann Dalton, Uma Ramaswami, Harri Niinikoski, Karine Mention, Patricio Kenny, Kaija-Leena Kolho, Julian Raiman, John Walter, Eileen Treacy,[...]. Mol Genet Metab 2007
66
31

A female case of type VIII glycogenosis who developed cirrhosis of the liver and hepatocellular tumor.
S Shiomi, Y Saeki, K Kim, S Nishiguchi, S Seki, T Kuroki, K Kobayashi, S Harihara, M Owada. Gastroenterol Jpn 1989
17
76

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
E A van Beurden, M de Graaf, U Wendel, R Gitzelmann, R Berger, I E van den Berg. Biochem Biophys Res Commun 1997
15
80

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
Barbara Burwinkel, Terje Rootwelt, Eli Anne Kvittingen, Pranesh K Chakraborty, Manfred W Kilimann. Pediatr Res 2003
27
44

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Stephanie Austin, David A Weinstein, Richard Lutz, Avihu Boneh, Priya S Kishnani. Mol Genet Metab 2014
29
41

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Anne Roscher, Jaina Patel, Stacy Hewson, Laura Nagy, Annette Feigenbaum, Jonathan Kronick, Julian Raiman, Andreas Schulze, Komudi Siriwardena, Saadet Mercimek-Mahmutoglu. Mol Genet Metab 2014
49
26


Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Anne Davit-Spraul, Monique Piraud, Dries Dobbelaere, Vassili Valayannopoulos, Philippe Labrune, Dalila Habes, Olivier Bernard, Emmanuel Jacquemin, Christiane Baussan. Mol Genet Metab 2011
31
35





Association of the FcepsilonRIbeta gene with bronchial hyper-responsiveness in an Italian population.
E Trabetti, V Cusin, G Malerba, L C Martinati, A Casartelli, A L Boner, P F Pignatti. J Med Genet 1998
33
27

Hearing loss in Townes-Brocks syndrome.
D R Rossmiller, T R Pasic. Otolaryngol Head Neck Surg 1994
27
33



Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.
M H Little, K A Williamson, M Mannens, A Kelsey, C Gosden, N D Hastie, V van Heyningen. Hum Mol Genet 1993
127
20


Townes-Brocks syndrome in two mentally retarded youngsters.
T H Cameron, A M Lachiewicz, A S Aylsworth. Am J Med Genet 1991
31
29

p53 abnormalities in B-cell prolymphocytic leukemia.
D Lens, P J De Schouwer, R A Hamoudi, M Abdul-Rauf, N Farahat, E Matutes, T Crook, M J Dyer, D Catovsky. Blood 1997
78
20

STAT6: its role in interleukin 4-mediated biological functions.
K Takeda, T Kishimoto, S Akira. J Mol Med (Berl) 1997
96
20


Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
U Suter, G J Snipes, R Schoener-Scott, A A Welcher, S Pareek, J R Lupski, R A Murphy, E M Shooter, P I Patel. J Biol Chem 1994
171
20



Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
B B Roa, C A Garcia, U Suter, D A Kulpa, C A Wise, J Mueller, A A Welcher, G J Snipes, E M Shooter, P I Patel,[...]. N Engl J Med 1993
327
20

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
E M Rinchik, S J Bultman, B Horsthemke, S T Lee, K M Strunk, R A Spritz, K M Avidano, M T Jong, R D Nicholls. Nature 1993
323
20

Control of inflammation, cytokine expression, and germinal center formation by BCL-6.
A L Dent, A L Shaffer, X Yu, D Allman, L M Staudt. Science 1997
740
20

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
20

Essential role of Stat6 in IL-4 signalling.
K Takeda, T Tanaka, W Shi, M Matsumoto, M Minami, S Kashiwamura, K Nakanishi, N Yoshida, T Kishimoto, S Akira. Nature 1996
20

Molecular and clinical study of 61 Angelman syndrome patients.
S Saitoh, N Harada, Y Jinno, K Hashimoto, K Imaizumi, Y Kuroki, Y Fukushima, T Sugimoto, M Renedo, J Wagstaff. Am J Med Genet 1994
72
20

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR.
A Martínez-Mir, E Paloma, R Allikmets, C Ayuso, T del Rio, M Dean, L Vilageliu, R Gonzàlez-Duarte, S Balcells. Nat Genet 1998
329
20


DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
J R Lupski, R M de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, B J Trask, O Saucedo-Cardenas, D F Barker, J M Killian, C A Garcia,[...]. Cell 1991
20

Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
U Finckh, S Xu, G Kumaramanickavel, M Schürmann, J K Mukkadan, S T Fernandez, S John, J L Weber, M J Denton, A Gal. Genomics 1998
25
36

Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?
J P Fryns, J Bande-Knops, H Van Den Berghe. Hum Genet 1979
28
32

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
J Kohlhase, A Wischermann, H Reichenbach, U Froster, W Engel. Nat Genet 1998
331
20

16q21 is critical for 16q deletion syndrome.
K Naritomi, N Shiroma, Y Izumikawa, K Sameshima, S Ohdo, K Hirayama. Clin Genet 1988
26
34

A genome-wide search for linkage to asthma. German Asthma Genetics Group.
M Wjst, G Fischer, T Immervoll, M Jung, K Saar, F Rueschendorf, A Reis, M Ulbrecht, M Gomolka, E H Weiss,[...]. Genomics 1999
289
20


Anticipation: an old idea in new genes.
M G McInnis. Am J Hum Genet 1996
92
20



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.