Folgen
Beverly S. Emanuel
Beverly S. Emanuel
Bestätigte E-Mail-Adresse bei mail.med.upenn.edu - Startseite
Titel
Zitiert von
Zitiert von
Jahr
The DNA sequence of human chromosome 22
I Dunham, AR Hunt, JE Collins, R Bruskiewich, DM Beare, M Clamp, ...
Nature 402 (6761), 489-495, 1999
14741999
22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino, N Philip, A Swillen, ...
Nature reviews Disease primers 1 (1), 1-19, 2015
12382015
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
N Galili, RJ Davis, WJ Fredericks, S Mukhopadhyay, FJ Rauscher III, ...
Nature genetics 5 (3), 230-235, 1993
10631993
Localization of gene for human p53 tumour antigen to band 17p13
M Isobe, BS Emanuel, D Givol, M Oren, CM Croce
nature 320 (6057), 84-85, 1986
7371986
Frequency of 22q11 deletions in patients with conotruncal defects
E Goldmuntz, BJ Clark, LE Mitchell, AF Jawad, BF Cuneo, L Reed, ...
Journal of the American College of Cardiology 32 (2), 492-498, 1998
6611998
Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis
TH Shaikh, H Kurahashi, SC Saitta, AM O’Hare, P Hu, BA Roe, ...
Human molecular genetics 9 (4), 489-501, 2000
6452000
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma
FG Barr, N Galili, J Holick, JA Biegel, G Rovera, BS Emanuel
Nature genetics 3 (2), 113-117, 1993
6381993
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
DA Driscoll, J Salvin, B Sellinger, ML Budarf, DM McDonald-McGinn, ...
Journal of medical genetics 30 (10), 813-817, 1993
5811993
The Philadelphia story: the 22q11. 2 deletion: report on 250 patients.
DM McDonald-McGinn, R Kirschner, E Goldmuntz, K Sullivan, P Eicher, ...
Genetic counseling (Geneva, Switzerland) 10 (1), 11-24, 1999
5271999
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
DA Driscoll, ML Budarf, BS Emanuel
American journal of human genetics 50 (5), 924, 1992
5221992
Deletions and microdeletions of 22q11. 2 in velo‐cardio‐facial syndrome
DA Driscoll, NB Spinner, ML Budarf, DM McDonald‐McGinn, EH Zackai, ...
American journal of medical genetics 44 (2), 261-268, 1992
4661992
Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11. 1→ q11. 2
MH Grossman, BS Emanuel, ML Budarf
Genomics 12 (4), 822-825, 1992
4101992
Psychoeducational profile of the 22q11. 2 microdeletion: a complex pattern
EM Moss, ML Batshaw, CB Solot, M Gerdes, DM McDonald-McGinn, ...
The Journal of pediatrics 134 (2), 193-198, 1999
3701999
Phenotype of the 22q11. 2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
DM Mcdonald-Mcginn, MK Tonnesen, A Laufer-Cahana, B Finucane, ...
Genetics in Medicine 3 (1), 23-29, 2001
3672001
Growth factor requirements of childhood acute leukemia: establishment of GM-CSF-dependent cell lines
B Lange, M Valtieri, D Santoli, D Caracciolo, F Mavilio, I Gemperlein, ...
3571987
Segmental duplications: an'expanding'role in genomic instability and disease
BS Emanuel, TH Shaikh
Nature Reviews Genetics 2 (10), 791-800, 2001
3492001
VEGF: A modifier of the del22q11 (DiGeorge) syndrome?
I Stalmans, D Lambrechts, F De Smet, S Jansen, J Wang, S Maity, ...
Nature medicine 9 (2), 173-182, 2003
3372003
Cognitive and behavior profile of preschool children with chromosome 22q11. 2 deletion
M Gerdes, C Solot, PP Wang, E Moss, D LaRossa, P Randall, ...
American journal of medical genetics 85 (2), 127-133, 1999
3231999
A 14; 18 and an 8; 14 chromosome translocation in a cell line derived from an acute B-cell leukemia.
L Pegoraro, A Palumbo, J Erikson, M Falda, B Giovanazzo, BS Emanuel, ...
Proceedings of the National Academy of Sciences 81 (22), 7166-7170, 1984
3211984
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11. 2 deletion syndrome
SE Fine, A Weissman, M Gerdes, J Pinto-Martin, EH Zackai, ...
Journal of autism and developmental disorders 35, 461-470, 2005
2822005
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20