A Rauch, S Zink, C Zweier, C T Thiel, A Koch, R Rauch, J Lascorz, U Hüffmeier, M Weyand, H Singer, M Hofbeck. J Med Genet 2005
Times Cited: 109
Times Cited: 109
Times Cited
Times Co-cited
Similarity
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Shay Ben-Shachar, Zhishuo Ou, Chad A Shaw, John W Belmont, Millan S Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V Reid Sutton,[...]. Am J Hum Genet 2008
Shay Ben-Shachar, Zhishuo Ou, Chad A Shaw, John W Belmont, Millan S Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V Reid Sutton,[...]. Am J Hum Genet 2008
40
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
T H Shaikh, H Kurahashi, S C Saitta, A M O'Hare, P Hu, B A Roe, D A Driscoll, D M McDonald-McGinn, E H Zackai, M L Budarf,[...]. Hum Mol Genet 2000
T H Shaikh, H Kurahashi, S C Saitta, A M O'Hare, P Hu, B A Roe, D A Driscoll, D M McDonald-McGinn, E H Zackai, M L Budarf,[...]. Hum Mol Genet 2000
32
A novel atypical 22q11.2 distal deletion in father and son.
S Garcia-Miñaur, J Fantes, R S Murray, M E M Porteous, L Strain, J E Burns, J Stephen, J P Warner. J Med Genet 2002
S Garcia-Miñaur, J Fantes, R S Murray, M E M Porteous, L Strain, J E Burns, J Stephen, J P Warner. J Med Genet 2002
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur,[...]. J Med Genet 1997
A K Ryan, J A Goodship, D I Wilson, N Philip, A Levy, H Seidel, S Schuffenhauer, H Oechsler, B Belohradsky, M Prieur,[...]. J Med Genet 1997
27
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, S R Patanjali, S M Weissman, K Anyane-Yeboa, D Warburton,[...]. Am J Hum Genet 1997
C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, S R Patanjali, S M Weissman, K Anyane-Yeboa, D Warburton,[...]. Am J Hum Genet 1997
26
Role of TBX1 in human del22q11.2 syndrome.
Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada, Takashi Sasaki, Shuichi Asakawa, Shinsei Minoshima, Fukiko Ichida, Kunitaka Joo, Misa Kimura, Shin-ichiro Imamura,[...]. Lancet 2003
Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada, Takashi Sasaki, Shuichi Asakawa, Shinsei Minoshima, Fukiko Ichida, Kunitaka Joo, Misa Kimura, Shin-ichiro Imamura,[...]. Lancet 2003
26
A novel 22q11.2 microdeletion in DiGeorge syndrome.
A Rauch, R A Pfeiffer, G Leipold, H Singer, M Tigges, M Hofbeck. Am J Hum Genet 1999
A Rauch, R A Pfeiffer, G Leipold, H Singer, M Tigges, M Hofbeck. Am J Hum Genet 1999
33
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
S C Saitta, J M McGrath, H Mensch, T H Shaikh, E H Zackai, B S Emanuel. Am J Hum Genet 1999
S C Saitta, J M McGrath, H Mensch, T H Shaikh, E H Zackai, B S Emanuel. Am J Hum Genet 1999
37
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
Tamim H Shaikh, Ronald J O'Connor, Mary Ella Pierpont, James McGrath, April M Hacker, Manjunath Nimmakayalu, Elizabeth Geiger, Beverly S Emanuel, Sulagna C Saitta. Genome Res 2007
Tamim H Shaikh, Ronald J O'Connor, Mary Ella Pierpont, James McGrath, April M Hacker, Manjunath Nimmakayalu, Elizabeth Geiger, Beverly S Emanuel, Sulagna C Saitta. Genome Res 2007
26
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Regina E Ensenauer, Adewale Adeyinka, Heather C Flynn, Virginia V Michels, Noralane M Lindor, D Brian Dawson, Erik C Thorland, Cindy Pham Lorentz, Jennifer L Goldstein, Marie T McDonald,[...]. Am J Hum Genet 2003
Regina E Ensenauer, Adewale Adeyinka, Heather C Flynn, Virginia V Michels, Noralane M Lindor, D Brian Dawson, Erik C Thorland, Cindy Pham Lorentz, Jennifer L Goldstein, Marie T McDonald,[...]. Am J Hum Genet 2003
23
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.
Fady M Mikhail, Maria Descartes, Arkadiusz Piotrowski, Robin Andersson, Teresita Diaz de Ståhl, Jan Komorowski, Carl E G Bruder, Jan P Dumanski, Andrew J Carroll. Am J Med Genet A 2007
Fady M Mikhail, Maria Descartes, Arkadiusz Piotrowski, Robin Andersson, Teresita Diaz de Ståhl, Jan Komorowski, Carl E G Bruder, Jan P Dumanski, Andrew J Carroll. Am J Med Genet A 2007
55
A common molecular basis for rearrangement disorders on chromosome 22q11.
L Edelmann, R K Pandita, E Spiteri, B Funke, R Goldberg, N Palanisamy, R S Chaganti, E Magenis, R J Shprintzen, B E Morrow. Hum Mol Genet 1999
L Edelmann, R K Pandita, E Spiteri, B Funke, R Goldberg, N Palanisamy, R S Chaganti, E Magenis, R J Shprintzen, B E Morrow. Hum Mol Genet 1999
20
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
D L Guris, J Fantes, D Tara, B J Druker, A Imamoto. Nat Genet 2001
D L Guris, J Fantes, D Tara, B J Druker, A Imamoto. Nat Genet 2001
19
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.
Olaug K Rødningen, Trine Prescott, Ann-Sofie Eriksson, Oddveig Røsby. Eur J Med Genet 2008
Olaug K Rødningen, Trine Prescott, Ann-Sofie Eriksson, Oddveig Røsby. Eur J Med Genet 2008
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Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome.
Deborah L Guris, Gregg Duester, Virginia E Papaioannou, Akira Imamoto. Dev Cell 2006
Deborah L Guris, Gregg Duester, Virginia E Papaioannou, Akira Imamoto. Dev Cell 2006
18
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Zhishuo Ou, Jonathan S Berg, Hagith Yonath, Victoria B Enciso, David T Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E Keegan, Vernon R Sutton, John Belmont,[...]. Genet Med 2008
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18
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E Campbell, Anita Rauch. Am J Hum Genet 2007
Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E Campbell, Anita Rauch. Am J Hum Genet 2007
18
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
Lorenzo D Botto, Kristin May, Paul M Fernhoff, Adolfo Correa, Karlene Coleman, Sonja A Rasmussen, Robert K Merritt, Leslie A O'Leary, Lee-Yang Wong, E Marsha Elixson,[...]. Pediatrics 2003
Lorenzo D Botto, Kristin May, Paul M Fernhoff, Adolfo Correa, Karlene Coleman, Sonja A Rasmussen, Robert K Merritt, Leslie A O'Leary, Lee-Yang Wong, E Marsha Elixson,[...]. Pediatrics 2003
17
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares,[...]. BMC Med Genet 2009
Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares,[...]. BMC Med Genet 2009
36
Another critical region for deletion of 22q11: a study of 100 patients.
H Kurahashi, E Tsuda, R Kohama, T Nakayama, M Masuno, K Imaizumi, T Kamiya, T Sano, S Okada, I Nishisho. Am J Med Genet 1997
H Kurahashi, E Tsuda, R Kohama, T Nakayama, M Masuno, K Imaizumi, T Kamiya, T Sano, S Okada, I Nishisho. Am J Med Genet 1997
27
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, Deborah A Driscoll, Donna M McDonald-McGinn, Melissa K Maisenbacher, Jill M Yersak, Prabir K Chakraborty, April M Hacker, Elaine H Zackai,[...]. Hum Mol Genet 2004
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, Deborah A Driscoll, Donna M McDonald-McGinn, Melissa K Maisenbacher, Jill M Yersak, Prabir K Chakraborty, April M Hacker, Elaine H Zackai,[...]. Hum Mol Genet 2004
16
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
F Amati, E Conti, A Novelli, M Bengala, M C Diglio, B Marino, A Giannotti, O Gabrielli, G Novelli, B Dallapiccola. Eur J Hum Genet 1999
F Amati, E Conti, A Novelli, M Bengala, M C Diglio, B Marino, A Giannotti, O Gabrielli, G Novelli, B Dallapiccola. Eur J Hum Genet 1999
25
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
D M McDonald-McGinn, M K Tonnesen, A Laufer-Cahana, B Finucane, D A Driscoll, B S Emanuel, E H Zackai. Genet Med 2001
D M McDonald-McGinn, M K Tonnesen, A Laufer-Cahana, B Finucane, D A Driscoll, B S Emanuel, E H Zackai. Genet Med 2001
16
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1.
L A Jerome, V E Papaioannou. Nat Genet 2001
L A Jerome, V E Papaioannou. Nat Genet 2001
15
Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
Lisa J Kobrynski, Kathleen E Sullivan. Lancet 2007
15
Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.
H Kurahashi, T Nakayama, Y Osugi, E Tsuda, M Masuno, K Imaizumi, T Kamiya, T Sano, S Okada, I Nishisho. Am J Hum Genet 1996
H Kurahashi, T Nakayama, Y Osugi, E Tsuda, M Masuno, K Imaizumi, T Kamiya, T Sano, S Okada, I Nishisho. Am J Hum Genet 1996
20
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
E A Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, G Ogunrinu, H F Sutherland, P J Scambler,[...]. Nature 2001
E A Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, G Ogunrinu, H F Sutherland, P J Scambler,[...]. Nature 2001
14
Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development.
Jason Newbern, Jian Zhong, Rasika S Wickramasinghe, Xiaoyan Li, Yaohong Wu, Ivy Samuels, Natalie Cherosky, J Colleen Karlo, Brianne O'Loughlin, Jamie Wikenheiser,[...]. Proc Natl Acad Sci U S A 2008
Jason Newbern, Jian Zhong, Rasika S Wickramasinghe, Xiaoyan Li, Yaohong Wu, Ivy Samuels, Natalie Cherosky, J Colleen Karlo, Brianne O'Loughlin, Jamie Wikenheiser,[...]. Proc Natl Acad Sci U S A 2008
14
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.
Caroline Mackie Ogilvie, Joo Wook Ahn, Kathy Mann, Roland G Roberts, Frances Flinter. Mol Cytogenet 2009
Caroline Mackie Ogilvie, Joo Wook Ahn, Kathy Mann, Roland G Roberts, Frances Flinter. Mol Cytogenet 2009
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Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome.
Kazuo Momma. Am J Cardiol 2010
Kazuo Momma. Am J Cardiol 2010
14
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Judith M A Verhagen, Karin E M Diderich, Grétel Oudesluijs, Grazia M S Mancini, Alex J Eggink, Anna C Verkleij-Hagoort, Irene A L Groenenberg, Patrick J Willems, Frederik A du Plessis, Stella A de Man,[...]. Am J Med Genet A 2012
Judith M A Verhagen, Karin E M Diderich, Grétel Oudesluijs, Grazia M S Mancini, Alex J Eggink, Anna C Verkleij-Hagoort, Irene A L Groenenberg, Patrick J Willems, Frederik A du Plessis, Stella A de Man,[...]. Am J Med Genet A 2012
34
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John Oghalai, Sarah Curran,[...]. Proc Natl Acad Sci U S A 2006
Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John Oghalai, Sarah Curran,[...]. Proc Natl Acad Sci U S A 2006
13
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
D M McDonald-McGinn, R Kirschner, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, C Solot, P Wang, I Jacobs,[...]. Genet Couns 1999
D M McDonald-McGinn, R Kirschner, E Goldmuntz, K Sullivan, P Eicher, M Gerdes, E Moss, C Solot, P Wang, I Jacobs,[...]. Genet Couns 1999
13
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
L Edelmann, R K Pandita, B E Morrow. Am J Hum Genet 1999
L Edelmann, R K Pandita, B E Morrow. Am J Hum Genet 1999
13
Detailed analysis of 22q11.2 with a high density MLPA probe set.
G R Jalali, J A S Vorstman, Ab Errami, R Vijzelaar, J Biegel, T Shaikh, B S Emanuel. Hum Mutat 2008
G R Jalali, J A S Vorstman, Ab Errami, R Vijzelaar, J Biegel, T Shaikh, B S Emanuel. Hum Mutat 2008
18
13
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Donna M McDonald-McGinn, Kathleen E Sullivan. Medicine (Baltimore) 2011
Donna M McDonald-McGinn, Kathleen E Sullivan. Medicine (Baltimore) 2011
13
Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tiong Yang Tan, Amanda Collins, Paul A James, George McGillivray, Zornitza Stark, Christopher T Gordon, Richard J Leventer, Kate Pope, Robin Forbes, John A Crolla,[...]. Am J Med Genet A 2011
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27
Microduplication and triplication of 22q11.2: a highly variable syndrome.
Twila M Yobb, Martin J Somerville, Lionel Willatt, Helen V Firth, Karen Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E Morrow, Lisa G Shaffer, Melanie Babcock,[...]. Am J Hum Genet 2005
Twila M Yobb, Martin J Somerville, Lionel Willatt, Helen V Firth, Karen Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E Morrow, Lisa G Shaffer, Melanie Babcock,[...]. Am J Hum Genet 2005
12
A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?
J Xu, Y S Fan, V M Siu. Am J Med Genet A 2008
J Xu, Y S Fan, V M Siu. Am J Med Genet A 2008
28
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.
Eric M Jackson, Tamim H Shaikh, Sridharan Gururangan, Marilyn C Jones, David Malkin, Sarah M Nikkel, Craig W Zuppan, Luanne M Wainwright, Fan Zhang, Jaclyn A Biegel. Hum Genet 2007
Eric M Jackson, Tamim H Shaikh, Sridharan Gururangan, Marilyn C Jones, David Malkin, Sarah M Nikkel, Craig W Zuppan, Luanne M Wainwright, Fan Zhang, Jaclyn A Biegel. Hum Genet 2007
26
Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.
Anne M Moon, Deborah L Guris, Ji-heui Seo, Leiming Li, Jennetta Hammond, Amy Talbot, Akira Imamoto. Dev Cell 2006
Anne M Moon, Deborah L Guris, Ji-heui Seo, Leiming Li, Jennetta Hammond, Amy Talbot, Akira Imamoto. Dev Cell 2006
12
Heart defects and other features of the 22q11 distal deletion syndrome.
Christina R Fagerberg, Jesper Graakjaer, Ulrike D Heinl, Lilian B Ousager, Inken Dreyer, Maria Kirchhoff, Anders A Rasmussen, Charlotte K Lautrup, Niels Birkebaek, Keld Sorensen. Eur J Med Genet 2013
Christina R Fagerberg, Jesper Graakjaer, Ulrike D Heinl, Lilian B Ousager, Inken Dreyer, Maria Kirchhoff, Anders A Rasmussen, Charlotte K Lautrup, Niels Birkebaek, Keld Sorensen. Eur J Med Genet 2013
42
The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen. J Med Genet 1998
K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen. J Med Genet 1998
11
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
Marie-France Portnoï, Fanny Lebas, Nicolas Gruchy, Azarnouche Ardalan, Valérie Biran-Mucignat, Valérie Malan, Lina Finkel, Gilles Roger, Sarah Ducrocq, Francis Gold,[...]. Am J Med Genet A 2005
Marie-France Portnoï, Fanny Lebas, Nicolas Gruchy, Azarnouche Ardalan, Valérie Biran-Mucignat, Valérie Malan, Lina Finkel, Gilles Roger, Sarah Ducrocq, Francis Gold,[...]. Am J Med Genet A 2005
13
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.
S Merscher, B Funke, J A Epstein, J Heyer, A Puech, M M Lu, R J Xavier, M B Demay, R G Russell, S Factor,[...]. Cell 2001
S Merscher, B Funke, J A Epstein, J Heyer, A Puech, M M Lu, R J Xavier, M B Demay, R G Russell, S Factor,[...]. Cell 2001
11
An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior.
Carla S D'Angelo, Fernanda S Jehee, Célia Priszkulnik Koiffmann. Am J Med Genet A 2007
Carla S D'Angelo, Fernanda S Jehee, Célia Priszkulnik Koiffmann. Am J Med Genet A 2007
45
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, Leon-Charles Tranchevent, Marc Gewillig, Karel Allegaert, Joris R Vermeesch, Yves Moreau, Koenraad Devriendt. Am J Med Genet A 2012
Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, Leon-Charles Tranchevent, Marc Gewillig, Karel Allegaert, Joris R Vermeesch, Yves Moreau, Koenraad Devriendt. Am J Med Genet A 2012
36
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.