| Year |
Citation |
Score |
| 2020 |
Montes AS, Osann KE, Gold JA, Tamura RN, Driscoll DJ, Butler MG, Kimonis VE. Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes. 11. PMID 33114160 DOI: 10.3390/genes11111250 |
0.301 |
|
| 2019 |
Kimonis VE, Tamura R, Gold JA, Patel N, Surampalli A, Manazir J, Miller JL, Roof E, Dykens E, Butler MG, Driscoll DJ. Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities. Genes. 10. PMID 31698873 DOI: 10.3390/Genes10110898 |
0.391 |
|
| 2019 |
Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ. Birth seasonality studies in a large Prader-Willi syndrome cohort. American Journal of Medical Genetics. Part A. PMID 31225937 DOI: 10.1002/Ajmg.A.61263 |
0.455 |
|
| 2018 |
Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. Journal of Medical Genetics. PMID 29776967 DOI: 10.1136/Jmedgenet-2017-105118 |
0.511 |
|
| 2018 |
Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. Journal of Medical Genetics. PMID 29730598 DOI: 10.1136/Jmedgenet-2018-105301 |
0.385 |
|
| 2018 |
Singh P, Mahmoud R, Gold J, Tamura RN, Miller JL, Butler MG, Driscoll DJ, Kimonis V. Perinatal complications associated with Prader-Willi syndrome (PWS) – comparison to the general population and among the different genetic subtypes. Pediatrics. 142: 230-230. DOI: 10.1542/Peds.142.1_Meetingabstract.230 |
0.483 |
|
| 2017 |
Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ. Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. American Journal of Medical Genetics. Part A. PMID 29271568 DOI: 10.1002/Ajmg.A.38582 |
0.437 |
|
| 2016 |
Burnett LC, LeDuc CA, Sulsona CR, Paull D, Rausch R, Eddiry S, Carli JF, Morabito MV, Skowronski AA, Hubner G, Zimmer M, Wang L, Day R, Levy B, Fennoy I, ... ... Driscoll DJ, et al. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. The Journal of Clinical Investigation. PMID 27941249 DOI: 10.1172/Jci88648 |
0.393 |
|
| 2016 |
Burnett LC, LeDuc CA, Sulsona CR, Paull D, Eddiry S, Levy B, Salles JP, Tauber M, Driscoll DJ, Egli D, Leibel RL. Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS. Stem Cell Research. 17: 526-530. PMID 27789403 DOI: 10.1016/J.Scr.2016.08.008 |
0.45 |
|
| 2016 |
Manzardo AM, Johnson L, Miller JL, Driscoll DJ, Butler MG. Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controls. American Journal of Medical Genetics. Part A. PMID 27214028 DOI: 10.1002/Ajmg.A.37749 |
0.328 |
|
| 2015 |
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, ... Driscoll DJ, et al. Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. American Journal of Medical Genetics. Part A. PMID 26692240 DOI: 10.1002/Ajmg.A.37519 |
0.46 |
|
| 2015 |
Johnson L, Manzardo AM, Miller JL, Driscoll DJ, Butler MG. Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings. American Journal of Medical Genetics. Part A. PMID 26615966 DOI: 10.1002/Ajmg.A.37488 |
0.324 |
|
| 2015 |
Butler MG, Nelson TA, Driscoll DJ, Manzardo AM. High plasma neurotensin levels in children with Prader-Willi syndrome. American Journal of Medical Genetics. Part A. 167: 1773-8. PMID 25847417 DOI: 10.1002/Ajmg.A.37103 |
0.318 |
|
| 2015 |
Butler MG, Hossain W, Sulsona C, Driscoll DJ, Manzardo AM. Increased plasma chemokine levels in children with Prader-Willi syndrome. American Journal of Medical Genetics. Part A. 167: 563-71. PMID 25691409 DOI: 10.1002/Ajmg.A.36908 |
0.384 |
|
| 2015 |
Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ. Growth charts for non-growth hormone treated Prader-Willi syndrome. Pediatrics. 135: e126-35. PMID 25489013 DOI: 10.1542/Peds.2014-1711 |
0.309 |
|
| 2015 |
Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B. Clinical utility gene card for: Angelman Syndrome. European Journal of Human Genetics : Ejhg. 23. PMID 24896151 DOI: 10.1038/Ejhg.2014.93 |
0.408 |
|
| 2014 |
Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B. Clinical utility gene card for: Prader-Willi Syndrome. European Journal of Human Genetics : Ejhg. 22. PMID 24736734 DOI: 10.1038/Ejhg.2014.66 |
0.392 |
|
| 2014 |
Heymsfield SB, Avena NM, Baier L, Brantley P, Bray GA, Burnett LC, Butler MG, Driscoll DJ, Egli D, Elmquist J, Forster JL, Goldstone AP, Gourash LM, Greenway FL, Han JC, et al. Hyperphagia: current concepts and future directions proceedings of the 2nd international conference on hyperphagia. Obesity (Silver Spring, Md.). 22: S1-S17. PMID 24574081 DOI: 10.1002/Oby.20646 |
0.327 |
|
| 2014 |
Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, et al. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 164-9. PMID 23928912 DOI: 10.1038/Gim.2013.97 |
0.486 |
|
| 2013 |
Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, ... ... Driscoll DJ, et al. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. The Journal of Clinical Investigation. 123: 3037-41. PMID 23778136 DOI: 10.1172/Jci68035 |
0.353 |
|
| 2013 |
Falaleeva M, Sulsona CR, Zielke HR, Currey KM, de la Grange P, Aslanzadeh V, Driscoll DJ, Stamm S. Molecular characterization of a patient presumed to have prader-willi syndrome. Clinical Medicine Insights. Case Reports. 6: 79-86. PMID 23700380 DOI: 10.4137/Ccrep.S11510 |
0.432 |
|
| 2013 |
Miller JL, Lynn CH, Shuster J, Driscoll DJ. A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome. Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association. 26: 2-9. PMID 23078343 DOI: 10.1111/J.1365-277X.2012.01275.X |
0.302 |
|
| 2012 |
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 10-26. PMID 22237428 DOI: 10.1038/Gim.0B013E31822Bead0 |
0.511 |
|
| 2012 |
Kim SJ, Miller JL, Kuipers PJ, German JR, Beaudet AL, Sahoo T, Driscoll DJ. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. European Journal of Human Genetics : Ejhg. 20: 283-90. PMID 22045295 DOI: 10.1038/Ejhg.2011.187 |
0.505 |
|
| 2012 |
Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genetic Testing and Molecular Biomarkers. 16: 178-86. PMID 21977908 DOI: 10.1089/Gtmb.2011.0115 |
0.434 |
|
| 2011 |
Miller JL, Lynn CH, Shuster J, Driscoll DJ. Carnitine and coenzyme Q10 levels in individuals with Prader-Willi syndrome. American Journal of Medical Genetics. Part A. 155: 569-73. PMID 21337696 DOI: 10.1002/Ajmg.A.33887 |
0.338 |
|
| 2010 |
Khalil AM, Driscoll DJ. Epigenetic regulation of pericentromeric heterochromatin during mammalian meiosis. Cytogenetic and Genome Research. 129: 280-9. PMID 20606401 DOI: 10.1159/000315903 |
0.307 |
|
| 2010 |
Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 385-95. PMID 20445456 DOI: 10.1097/Gim.0B013E3181Def138 |
0.513 |
|
| 2009 |
Miller JL, Shuster J, Theriaque D, Driscoll DJ, Wagner M. Sleep disordered breathing in infants with Prader-Willi syndrome during the first 6 weeks of growth hormone therapy: a pilot study. Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine. 5: 448-53. PMID 19961030 DOI: 10.5664/Jcsm.27601 |
0.317 |
|
| 2009 |
Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ. Is gestation in Prader-Willi syndrome affected by the genetic subtype? Journal of Assisted Reproduction and Genetics. 26: 461-6. PMID 19760168 DOI: 10.1007/S10815-009-9341-7 |
0.501 |
|
| 2009 |
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. American Journal of Human Genetics. 84: 780-91. PMID 19500772 DOI: 10.1016/J.Ajhg.2009.05.005 |
0.461 |
|
| 2009 |
Miller JL, Couch J, Schwenk K, Long M, Towler S, Theriaque DW, He G, Liu Y, Driscoll DJ, Leonard CM. Early childhood obesity is associated with compromised cerebellar development. Developmental Neuropsychology. 34: 272-83. PMID 19437203 DOI: 10.1080/87565640802530961 |
0.307 |
|
| 2009 |
Cassidy SB, Driscoll DJ. Prader-Willi syndrome. European Journal of Human Genetics : Ejhg. 17: 3-13. PMID 18781185 DOI: 10.1038/Ejhg.2008.165 |
0.516 |
|
| 2009 |
Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MMJ, et al. Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations (DOI:10.1016/j.ajhg.2009.05.005) American Journal of Human Genetics. 85: 537. DOI: 10.1016/J.Ajhg.2009.08.013 |
0.373 |
|
| 2008 |
Miller JL, Goldstone AP, Couch JA, Shuster J, He G, Driscoll DJ, Liu Y, Schmalfuss IM. Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. American Journal of Medical Genetics. Part A. 146: 570-7. PMID 17431897 DOI: 10.1002/Ajmg.A.31677 |
0.358 |
|
| 2007 |
Miller JL, Couch JA, Leonard CM, Schwenk K, Towler SD, Shuster J, Goldstone AP, He G, Driscoll DJ, Liu Y. Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 536-43. PMID 17700392 DOI: 10.1097/Gim.0B013E31812F720D |
0.368 |
|
| 2007 |
Miller JL, Couch JA, Schmalfuss I, He G, Liu Y, Driscoll DJ. Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome. American Journal of Medical Genetics. Part A. 143: 476-83. PMID 17103438 DOI: 10.1002/Ajmg.A.31508 |
0.46 |
|
| 2007 |
Butler MG, Theodoro MF, Bittel DC, Kuipers PJ, Driscoll DJ, Talebizadeh Z. X-chromosome inactivation patterns in females with Prader-Willi syndrome. American Journal of Medical Genetics. Part A. 143: 469-75. PMID 17036338 DOI: 10.1002/Ajmg.A.31506 |
0.466 |
|
| 2007 |
Bittel DC, Kibiryeva N, McNulty SG, Driscoll DJ, Butler MG, White RA. Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. American Journal of Medical Genetics. Part A. 143: 422-9. PMID 17036336 DOI: 10.1002/Ajmg.A.31504 |
0.402 |
|
| 2006 |
Miller J, Kranzler J, Liu Y, Schmalfuss I, Theriaque DW, Shuster JJ, Hatfield A, Mueller OT, Goldstone AP, Sahoo T, Beaudet AL, Driscoll DJ. Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. The Journal of Pediatrics. 149: 192-8. PMID 16887432 DOI: 10.1016/J.Jpeds.2006.04.013 |
0.303 |
|
| 2006 |
Zhuang H, Kosboth M, Lee P, Rice A, Driscoll DJ, Zori R, Narain S, Lyons R, Satoh M, Sobel E, Reeves WH. Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p. Arthritis and Rheumatism. 54: 1573-9. PMID 16645992 DOI: 10.1002/Art.21800 |
0.368 |
|
| 2006 |
Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. The Journal of Clinical Endocrinology and Metabolism. 91: 413-7. PMID 16317059 DOI: 10.1210/Jc.2005-1279 |
0.311 |
|
| 2006 |
Khalil AM, Driscoll DJ. Histone H3 lysine 4 dimethylation is enriched on the inactive sex chromosomes in male meiosis but absent on the inactive X in female somatic cells. Cytogenetic and Genome Research. 112: 11-5. PMID 16276085 DOI: 10.1159/000087508 |
0.315 |
|
| 2005 |
Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Research. 33: 4740-53. PMID 16116039 DOI: 10.1093/Nar/Gki786 |
0.345 |
|
| 2005 |
Shapira NA, Lessig MC, He AG, James GA, Driscoll DJ, Liu Y. Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI Journal of Neurology, Neurosurgery and Psychiatry. 76: 260-262. PMID 15654046 DOI: 10.1136/Jnnp.2004.039024 |
0.316 |
|
| 2005 |
Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics. 85: 85-91. PMID 15607424 DOI: 10.1016/J.Ygeno.2004.10.010 |
0.461 |
|
| 2004 |
Khalil AM, Boyar FZ, Driscoll DJ. Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis. Proceedings of the National Academy of Sciences of the United States of America. 101: 16583-7. PMID 15536132 DOI: 10.1073/Pnas.0406325101 |
0.359 |
|
| 2004 |
Shapira NA, Lessig MC, Lewis MH, Goodman WK, Driscoll DJ. Effects of topiramate in adults with Prader-Willi syndrome. American Journal of Mental Retardation : Ajmr. 109: 301-9. PMID 15176917 DOI: 10.1352/0895-8017(2004)109<301:Eotiaw>2.0.Co;2 |
0.337 |
|
| 2002 |
Ge Y, Ohta T, Driscoll DJ, Nicholls RD, Kalra SP. Anorexigenic melanocortin signaling in the hypothalamus is augmented in association with failure-to-thrive in a transgenic mouse model for Prader-Willi syndrome. Brain Research. 957: 42-5. PMID 12443978 DOI: 10.1016/S0006-8993(02)03583-7 |
0.304 |
|
| 2002 |
Shapira NA, Lessig MC, Murphy TK, Driscoll DJ, Goodman WK. Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 5: 141-5. PMID 12135538 DOI: 10.1017/S1461145702002833 |
0.34 |
|
| 2001 |
Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ. A family with a grand-maternally derived interstitial duplication of proximal 15q. Clinical Genetics. 60: 421-30. PMID 11846734 DOI: 10.1034/J.1399-0004.2001.600604.X |
0.697 |
|
| 2001 |
Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. Journal of Medical Genetics. 38: 834-45. PMID 11748306 DOI: 10.1136/Jmg.38.12.834 |
0.721 |
|
| 2001 |
Williams CA, Lossie A, Driscoll D. Angelman syndrome: mimicking conditions and phenotypes. American Journal of Medical Genetics. 101: 59-64. PMID 11343340 DOI: 10.1002/Ajmg.1316 |
0.702 |
|
| 2000 |
Glenn CC, Deng G, Michaelis RC, Tarleton J, Phelan MC, Surh L, Yang TP, Driscoll DJ. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenatal Diagnosis. 20: 300-6. PMID 10740202 DOI: 10.1002/(Sici)1097-0223(200004)20:4<300::Aid-Pd803>3.0.Co;2-A |
0.452 |
|
| 1999 |
Lossie AC, Driscoll DJ. Transmission of Angelman syndrome by an affected mother Genetics in Medicine. 1: 262-266. PMID 11258627 DOI: 10.1097/00125817-199909000-00004 |
0.708 |
|
| 1999 |
Amos-Landgraf JM, Yonggang J, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. Chromosome breakage in the prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints American Journal of Human Genetics. 65: 370-386. PMID 10417280 DOI: 10.1086/302510 |
0.477 |
|
| 1999 |
Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proceedings of the National Academy of Sciences of the United States of America. 96: 8064-9. PMID 10393948 DOI: 10.1073/Pnas.96.14.8064 |
0.679 |
|
| 1999 |
Jong MTC, Carey AH, Caldwell KA, Lau MH, Handel MA, Driscoll DJ, Stewart CL, Rinchik EM, Nicholls RD. Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region Human Molecular Genetics. 8: 795-803. PMID 10196368 DOI: 10.1093/Hmg/8.5.795 |
0.401 |
|
| 1999 |
Jong MT, Gray TA, Ji Y, Glenn CC, Saitoh S, Driscoll DJ, Nicholls RD. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Human Molecular Genetics. 8: 783-93. PMID 10196367 DOI: 10.1093/Hmg/8.5.783 |
0.46 |
|
| 1999 |
Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD. Imprinting-mutation mechanisms in Prader-Willi syndrome American Journal of Human Genetics. 64: 397-413. PMID 9973278 DOI: 10.1086/302233 |
0.475 |
|
| 1999 |
Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation American Journal of Human Genetics. 64: 385-396. PMID 9973277 DOI: 10.1086/302232 |
0.467 |
|
| 1998 |
Arn PH, Williams CA, Zori RT, Driscoll DJ, Rosenblatt DS. Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. American Journal of Medical Genetics. 77: 198-200. PMID 9605586 DOI: 10.1002/(SICI)1096-8628(19980518)77:3<198::AID-AJMG4>3.0.CO;2-M |
0.351 |
|
| 1998 |
Zori RT, Boyar FZ, Williams WN, Gray BA, Bent-Williams A, Stalker HJ, Rimer LA, Nackashi JA, Driscoll DJ, Rasmussen SA, Dixon-Wood V, Williams CA. Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. American Journal of Medical Genetics. 77: 8-11. PMID 9557885 DOI: 10.1002/(Sici)1096-8628(19980428)77:1<8::Aid-Ajmg2>3.0.Co;2-O |
0.453 |
|
| 1997 |
Glenn CC, Driscoll DJ, Yang TP, Nicholls RD. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Molecular Human Reproduction. 3: 321-32. PMID 9237260 DOI: 10.1093/MOLEHR/3.4.321 |
0.431 |
|
| 1997 |
Connerton-Moyer KJ, Nicholls RD, Schwartz S, Driscoll DJ, Hendrickson JE, Williams CA, Pauli RM. Unexpected familial recurrence in Angelman syndrome. American Journal of Medical Genetics. 70: 253-60. PMID 9188662 DOI: 10.1002/(Sici)1096-8628(19970613)70:3<253::Aid-Ajmg8>3.0.Co;2-X |
0.447 |
|
| 1997 |
Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, et al. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. American Journal of Medical Genetics. 68: 195-206. PMID 9028458 DOI: 10.1002/(Sici)1096-8628(19970120)68:2<195::Aid-Ajmg15>3.0.Co;2-P |
0.427 |
|
| 1996 |
Nicholls RD, Jong MTC, Glenn CC, Gabriel J, Rogan PK, Driscoll DJ, Saitoh S. Multiple imprinted genes associated with Prader-Willi syndrome and location of an imprinting control element Acta Geneticae Medicae Et Gemellologiae. 45: 87-89. PMID 8872016 DOI: 10.1017/S000156600000115X |
0.504 |
|
| 1996 |
Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. American Journal of Medical Genetics. 62: 10-5. PMID 8779316 DOI: 10.1002/(Sici)1096-8628(19960301)62:1<10::Aid-Ajmg3>3.0.Co;2-# |
0.48 |
|
| 1996 |
Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations Proceedings of the National Academy of Sciences of the United States of America. 93: 7811-7815. PMID 8755558 DOI: 10.1073/Pnas.93.15.7811 |
0.476 |
|
| 1995 |
Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. American Journal of Medical Genetics. 56: 237-8. PMID 7625452 DOI: 10.1002/Ajmg.1320560224 |
0.412 |
|
| 1994 |
Driscoll DJ. Genomic imprinting in humans. Journal of Molecular and Genetic Medicine. 4: 37-77. PMID 7981630 DOI: 10.1016/B978-0-12-462004-9.50006-2 |
0.317 |
|
| 1993 |
Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. American Journal of Medical Genetics. 46: 379-83. PMID 8357008 DOI: 10.1002/Ajmg.1320460407 |
0.416 |
|
| 1993 |
Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD. Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. American Journal of Medical Genetics. 47: 683-6. PMID 8266996 DOI: 10.1002/Ajmg.1320470519 |
0.498 |
|
| 1993 |
Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. American Journal of Medical Genetics. 47: 504-11. PMID 8256814 DOI: 10.1002/Ajmg.1320470414 |
0.469 |
|
| 1993 |
Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ. Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Human Molecular Genetics. 2: 1377-82. PMID 8242060 DOI: 10.1093/HMG/2.9.1377 |
0.391 |
|
| 1993 |
Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ. Functional imprinting and epigenetic modification of the human SNRPN gene Human Molecular Genetics. 2: 2001-2005. PMID 8111367 DOI: 10.1093/Hmg/2.12.2001 |
0.453 |
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| 1993 |
Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA. Cytogenetic and molecular analysis in Angelman syndrome. American Journal of Medical Genetics. 46: 7-11. PMID 8098583 DOI: 10.1002/ajmg.1320460104 |
0.373 |
|
| 1992 |
Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics. 13: 917-24. PMID 1505981 DOI: 10.1016/0888-7543(92)90001-9 |
0.422 |
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| 1989 |
Glaser T, Driscoll DJ, Antonarakis S, Valle D, Housman D. A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. Genomics. 5: 880-93. PMID 2574149 DOI: 10.1016/0888-7543(89)90130-4 |
0.329 |
|
| 1989 |
McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis SE. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics. 5: 325-331. PMID 2529205 DOI: 10.1016/0888-7543(89)90065-7 |
0.389 |
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