-
2
-
-
0037981434
-
Velo-cardio-facial syndrome: Guidelines for diagnosis, treatment and follow-up of ent manifestations
-
Vantrappen G, Rommel N, Swillen A, Cremers CW, Fryns JP, Devriendt K: Velo- cardio- facial syndrome: guidelines for diagnosis, treatment and follow- up of ent manifestations. Acta Otorhinolaryngol Belg 2003;57:101-106. (Pubitemid 36693208)
-
(2003)
Acta Oto-Rhino-Laryngologica Belgica
, vol.57
, Issue.2
, pp. 101-106
-
-
Vantrappen, G.1
Rommel, N.2
Swillen, A.3
Cremers, C.W.R.J.4
Fryns, J.P.5
Devriendt, K.6
-
3
-
-
0036897149
-
Otolaryngologic manifestations of the 22q11.2 deletion syndrome
-
Dyce O, McDonald- McGinn D, Kirschner RE, Zackai E, Young K, Jacobs IN: Otola ryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 2002;128: 1408-1412. (Pubitemid 35424675)
-
(2002)
Archives of Otolaryngology - Head and Neck Surgery
, vol.128
, Issue.12
, pp. 1408-1412
-
-
Dyce, O.1
McDonald-McGinn, D.2
Kirschner, R.E.3
Zackai, E.4
Young, K.5
Jacobs, I.N.6
-
4
-
-
77952328830
-
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
-
Momma K: Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010;105:1617-1624.
-
(2010)
Am. J. Cardiol.
, vol.105
, pp. 1617-1624
-
-
Momma, K.1
-
6
-
-
38849085346
-
Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
-
DOI 10.1542/peds.2007-0929
-
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald- McGinn D, Bahi- Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008;121:404-410. (Pubitemid 351198468)
-
(2008)
Pediatrics
, vol.121
, Issue.2
, pp. 404-410
-
-
Battaglia, A.1
Hoyme, H.E.2
Dallapiccola, B.3
Zackai, E.4
Hudgins, L.5
McDonald-McGinn, D.6
Bahi-Buisson, N.7
Romano, C.8
Williams, C.A.9
Braley, L.L.10
Zuberi, S.M.11
Carey, J.C.12
-
7
-
-
77955286349
-
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
-
Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster- Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG: Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A 2010;152A:1951-1959.
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 1951-1959
-
-
Rosenfeld, J.A.1
Crolla, J.A.2
Tomkins, S.3
Bader, P.4
Morrow, B.5
Gorski, J.6
Troxell, R.7
Forster-Gibson, C.8
Cilliers, D.9
Hislop, R.G.10
Lamb, A.11
Torchia, B.12
Ballif, B.C.13
Shaffer, L.G.14
-
8
-
-
13944273804
-
The etiology of Wolf-Hirschhorn syndrome
-
DOI 10.1016/j.tig.2005.01.008
-
Bergemann AD, Cole F, Hirschhorn K: The etiology of Wolf- Hirschhorn syndrome. Trends Genet 2005;21:188-195. (Pubitemid 40269858)
-
(2005)
Trends in Genetics
, vol.21
, Issue.3
, pp. 188-195
-
-
Bergemann, A.D.1
Cole, F.2
Hirschhorn, K.3
-
9
-
-
3843117833
-
Histopathological basis of hearing impairment in Wolf-Hirschhorn syndrome
-
DOI 10.1097/00005537-200408000-00021
-
Ulualp SO, Wright CG, Pawlowski KS, Roland PS: Histopathological basis of hearing impairment in Wolf- Hirschhorn syndrome. Laryngoscope 2004;114: 1426-1430. (Pubitemid 39045516)
-
(2004)
Laryngoscope
, vol.114
, Issue.8
, pp. 1426-1430
-
-
Ulualp, S.O.1
Wright, C.G.2
Pawlowski, K.S.3
Roland, P.S.4
-
11
-
-
55949113926
-
Update on the clinical features and natural history of wolf-hirschhorn 4p- syndrome: Experience with 87 patients and recommendations for routine health supervision
-
Battaglia A, Filippi T, Carey JC: Update on the clinical features and natural history of Wolf- Hirschhorn (4p- ) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 2008;148C:246-251.
-
(2008)
Am. J. Med. Genet. C Semin. Med. Genet.
, vol.148 C
, pp. 246-251
-
-
Battaglia, A.1
Filippi, T.2
Carey, J.C.3
-
12
-
-
22044447468
-
Terminal deletion of 6p results in a recognizable phenotype
-
DOI 10.1002/ajmg.a.30784
-
Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L: Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet A 2005;136: 162-168. (Pubitemid 40967107)
-
(2005)
American Journal of Medical Genetics
, vol.136 A
, Issue.2
, pp. 162-168
-
-
Lin, R.J.1
Cherry, A.M.2
Chen, K.C.3
Lyons, M.4
Hoyme, H.E.5
Hudgins, L.6
-
13
-
-
0033012816
-
Delineation of two distinct 6p deletion syndromes
-
DOI 10.1007/s004390050911
-
Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J: Delineation of two distinct 6p deletion syndromes. Hum Genet 1999;104:64-72. (Pubitemid 29134643)
-
(1999)
Human Genetics
, vol.104
, Issue.1
, pp. 64-72
-
-
Davies, A.F.1
Mirza, G.2
Sekhon, G.3
Turnpenny, P.4
Leroy, F.5
Speleman, F.6
Law, C.7
Van Regemorter, N.8
Vamos, E.9
Flinter, F.10
Ragoussis, J.11
-
14
-
-
44049103092
-
Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype
-
DOI 10.1111/j.1469-7610.2008.01887.x
-
Martens MA, Wilson SJ, Reutens DC: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry 2008;49: 576-608. (Pubitemid 351713313)
-
(2008)
Journal of Child Psychology and Psychiatry and Allied Disciplines
, vol.49
, Issue.6
, pp. 576-608
-
-
Martens, M.A.1
Wilson, S.J.2
Reutens, D.C.3
-
15
-
-
77951542710
-
Auditory function hearing loss in children and adults with williams syndrome: Cochlear impairment in individuals with otherwise normal hearing
-
Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL: Auditory function, hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet C 2010;154C:249-265.
-
(2010)
Am. J. Med. Genet. C
, vol.154 C
, pp. 249-265
-
-
Marler, J.A.1
Sitcovsky, J.L.2
Mervis, C.B.3
Kistler, D.J.4
Wightman, F.L.5
-
16
-
-
21644461779
-
Multisystem study of 20 older adults with williams syndrome
-
Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR: Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet A 2004;131: 255-264.
-
(2004)
Am. J. Med. Genet. A
, vol.131
, pp. 255-264
-
-
Cherniske, E.M.1
Carpenter, T.O.2
Klaiman, C.3
Young, E.4
Bregman, J.5
Insogna, K.6
Schultz, R.T.7
Pober, B.R.8
-
17
-
-
27444431930
-
Sensorineural hearing loss in children and adults with Williams syndrome
-
DOI 10.1002/ajmg.a.30970
-
Marler JA, Elfenbein JL, Ryals BM, Urban Z, Netzloff ML: Sensorineural hearing loss in children and adults with Williams syndrome. Am J Med Genet A 2005;138:318-327. (Pubitemid 41532948)
-
(2005)
American Journal of Medical Genetics
, vol.138 A
, Issue.4
, pp. 318-327
-
-
Marler, J.A.1
Elfenbein, J.L.2
Ryals, B.M.3
Urban, Z.4
Netzloff, M.L.5
-
18
-
-
74649087217
-
Cardiovascular abnormalities interventions and long-term outcomes in infantile williams syndrome
-
Collins RT, 2nd, Kaplan P, Somes GW, Rome JJ: Cardiovascular abnormalities, interventions, and long- term outcomes in infantile Williams syndrome. J Pediatr 2010;156:253- 258, e251.
-
(2010)
J. Pediatr.
, vol.156
, Issue.253-258
-
-
Collins, R.T.1
Kaplan II, P.2
Somes, G.W.3
Rome, J.J.4
-
19
-
-
0028306971
-
Nature of the fine fibrils of the basilar membrane in the cochlea
-
Mikuni H, Ushiki T, Abe K, Fukuda S, Inuyama Y: Nature of the fine fibrils of the basilar membrane in the cochlea. Arch Histol Cytol 1994;57:187-191 (Pubitemid 24196208)
-
(1994)
Archives of Histology and Cytology
, vol.57
, Issue.2
, pp. 187-191
-
-
Mikuni, H.1
Ushiki, T.2
Abe, K.3
Fukuda, S.4
Inuyama, Y.5
-
22
-
-
0033034049
-
Vestibular function in children with the CHARGE association
-
Wiener- Vacher SR, Amanou L, Denise P, Narcy P, Manach Y: Vestibular function in children with the CHARGE association. Arch Otolaryngol Head Neck Surg 1999;125:342-347. (Pubitemid 29133702)
-
(1999)
Archives of Otolaryngology - Head and Neck Surgery
, vol.125
, Issue.3
, pp. 342-347
-
-
Wiener-Vacher, S.R.1
Amanou, L.2
Denise, P.3
Narcy, P.4
Manach, Y.5
-
26
-
-
31544463054
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
-
DOI 10.1086/500273
-
Lalani SR, Safiullah AM, Fernbach SD, et al: Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype- phenotype correlation. Am J Hum Genet 2006;78:303-314. (Pubitemid 43157569)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 303-314
-
-
Lalani, S.R.1
Safiullah, A.M.2
Fernbach, S.D.3
Harutyunyan, K.C.4
Thaller, C.5
Peterson, L.E.6
McPherson, J.D.7
Gibbs, R.A.8
White, L.D.9
Hefner, M.10
Davenport, S.L.H.11
Graham Jr., J.M.12
Bacino, C.A.13
Glass, N.L.14
Towbin, J.A.15
Craigen, W.J.16
Neish, S.R.17
Lin, A.E.18
Belmont, J.W.19
-
29
-
-
31644450584
-
Sall1 mutation analysis in townes-brocks syndrome: Twelve novel mutations and expansion of the phenotype
-
Botzenhart EM, Green A, Ilyina H, et al: SALL1 mutation analysis in Townes- Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat 2005;26:282.
-
(2005)
Hum. Mutat.
, vol.26
, pp. 282
-
-
Botzenhart, E.M.1
Green, A.2
Ilyina, H.3
-
30
-
-
18144437181
-
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
-
Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BL, John SW: Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet 2000;9:1021-1032. (Pubitemid 30216007)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.7
, pp. 1021-1032
-
-
Smith, R.S.1
Zabaleta, A.2
Kume, T.3
Savinova, O.V.4
Kidson, S.H.5
Martin, J.E.6
Nishimura, D.Y.7
Alward, W.L.M.8
Hogan, B.L.M.9
John, S.W.M.10
-
32
-
-
33846207546
-
Deregulated Ras signaling in developmental disorders: new tricks for an old dog
-
DOI 10.1016/j.gde.2006.12.004, PII S0959437X06002395, Genetic and Cellular mechanisms of oncogenesis
-
Schubbert S, Bollag G, Shannon K: Deregulated Ras signaling in developmental disorders: new tricks for an old dog. Curr Opin Genet Dev 2007;17: 15-22. (Pubitemid 46109294)
-
(2007)
Current Opinion in Genetics and Development
, vol.17
, Issue.1
, pp. 15-22
-
-
Schubbert, S.1
Bollag, G.2
Shannon, K.3
-
34
-
-
34249912624
-
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
-
DOI 10.1542/peds.2006-0211
-
Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A: The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 2007;119:e1325-e1331. (Pubitemid 46871252)
-
(2007)
Pediatrics
, vol.119
, Issue.6
-
-
Sznajer, Y.1
Keren, B.2
Baumann, C.3
Pereira, S.4
Alberti, C.5
Elion, J.6
Cave, H.7
Verloes, A.8
-
35
-
-
68649121646
-
The RAS opathies: Developmental syndromes of Ras/MAPK pathway dysregulation
-
Tidyman WE, Rauen KA: The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009;19:230-236.
-
(2009)
Curr. Opin. Genet. Dev.
, vol.19
, pp. 230-236
-
-
Tidyman, W.E.1
Rauen, K.A.2
-
36
-
-
33750077549
-
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome
-
DOI 10.1111/j.1540-8167.2006.00587.x
-
Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, Towbin JA, Ackerman MJ, Murphy L: Clinical course and risk stratification of patients affected with the Jervell and Lange- Nielsen syndrome. J Cardiovasc Electrophysiol 2006;17:1161-1168. (Pubitemid 44583855)
-
(2006)
Journal of Cardiovascular Electrophysiology
, vol.17
, Issue.11
, pp. 1161-1168
-
-
Goldenberg, I.1
Moss, A.J.2
Zareba, W.3
Mcnitt, S.4
Robinson, J.L.5
Qi, M.6
Towbin, J.A.7
Ackerman, M.J.8
Murphy, L.9
-
37
-
-
0031936234
-
Mutation of the gene for IsK associated with both Jervell and Lange- Nielsen and Romano-Ward forms of long-QT syndrome
-
Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH: Mutation of the gene for IsK associated with both Jervell and Lange- Nielsen and Romano- Ward forms of Long- QT syndrome. Circulation 1998;97:142-146. (Pubitemid 28124670)
-
(1998)
Circulation
, vol.97
, Issue.2
, pp. 142-146
-
-
Duggal, P.1
Vesely, M.R.2
Wattanasirichaigoon, D.3
Villafane, J.4
Kaushik, V.5
Beggs, A.H.6
-
39
-
-
34547651205
-
Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome
-
DOI 10.1016/j.amjcard.2007.03.093, PII S000291490700968X
-
Limongelli G, Pacileo G, Marino B, Digilio MC, Sarkozy A, Elliott P, Versacci P, Calabro P, De Zorzi A, Di Salvo G, Syrris P, Patton M, McKenna WJ, Dallapiccola B, Calabro R: Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol 2007;100:736-741. (Pubitemid 47223154)
-
(2007)
American Journal of Cardiology
, vol.100
, Issue.4
, pp. 736-741
-
-
Limongelli, G.1
Pacileo, G.2
Marino, B.3
Digilio, M.C.4
Sarkozy, A.5
Elliott, P.6
Versacci, P.7
Calabro, P.8
De Zorzi, A.9
Di Salvo, G.10
Syrris, P.11
Patton, M.12
McKenna, W.J.13
Dallapiccola, B.14
Calabro, R.15
-
40
-
-
43049101740
-
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in leopard syndrome
-
Limongelli G, Sarkozy A, Pacileo G, Calabro P, Digilio MC, Maddaloni V, Gagliardi G, Di Salvo G, Iacomino M, Marino B, Dallapiccola B, Calabro R: Genotype- phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet A 2008;146A: 620-628.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 620-628
-
-
Limongelli, G.1
Sarkozy, A.2
Pacileo, G.3
Calabro, P.4
Digilio, M.C.5
Maddaloni, V.6
Gagliardi, G.7
Di Salvo, G.8
Iacomino, M.9
Marino, B.10
Dallapiccola, B.11
Calabro, R.12
-
41
-
-
18444401014
-
Noonan syndrome and related disorders: Genetics and pathogenesis
-
DOI 10.1146/annurev.genom.6.080604.162305
-
Tartaglia M, Gelb BD: Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2005;6:45-68. (Pubitemid 41397075)
-
(2005)
Annual Review of Genomics and Human Genetics
, vol.6
, pp. 45-68
-
-
Tartaglia, M.1
Gelb, B.D.2
-
42
-
-
0036074033
-
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
-
DOI 10.1086/341528
-
Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B: Grouping of multiple- lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002;71:389-394. (Pubitemid 34800254)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 389-394
-
-
Digilio, M.C.1
Conti, E.2
Sarkozy, A.3
Mingarelli, R.4
Dottorini, T.5
Marino, B.6
Pizzuti, A.7
Dallapiccola, B.8
-
43
-
-
63749111765
-
Germline BRAF mutations in noonan leopard and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
-
Sarkozy A, Carta C, Moretti S, et al: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009;30:695-702.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 695-702
-
-
Sarkozy, A.1
Carta, C.2
Moretti, S.3
-
44
-
-
34547530823
-
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
-
DOI 10.1038/ng2073, PII NG2073
-
Pandit B, Sarkozy A, Pennacchio LA, et al: Gain- of- function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007;39:1007-1012. (Pubitemid 47185177)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 1007-1012
-
-
Pandit, B.1
Sarkozy, A.2
Pennacchio, L.A.3
Carta, C.4
Oishi, K.5
Martinelli, S.6
Pogna, E.A.7
Schackwitz, W.8
Ustaszewska, A.9
Landstrom, A.10
Bos, J.M.11
Ommen, S.R.12
Esposito, G.13
Lepri, F.14
Faul, C.15
Mundel, P.16
Lopez Siguero, J.P.17
Tenconi, R.18
Selicorni, A.19
Rossi, C.20
Mazzanti, L.21
Torrente, I.22
Marino, B.23
Digilio, M.C.24
Zampino, G.25
Ackerman, M.J.26
Dallapiccola, B.27
Tartaglia, M.28
Gelb, B.D.29
more..
-
45
-
-
34247482786
-
Alstrom syndrome: Progressive deafness and blindness
-
Welsh LW: Alstrom syndrome: progressive deafness and blindness. Ann Otol Rhinol Laryngol 2007;116:281-285. (Pubitemid 46656063)
-
(2007)
Annals of Otology, Rhinology and Laryngology
, vol.116
, Issue.4
, pp. 281-285
-
-
Welsh, L.W.1
-
47
-
-
0033385080
-
Phytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management
-
DOI 10.1002/(SICI)1098-1101(1999)14:4<181::AID-JCA5>3.0.CO;2-Z
-
Weinstein R: Phytanic acid storage disease (Refsum disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher 1999;14:181-184. (Pubitemid 30020638)
-
(1999)
Journal of Clinical Apheresis
, vol.14
, Issue.4
, pp. 181-184
-
-
Weinstein, R.1
-
49
-
-
34250833548
-
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation
-
DOI 10.1111/j.1600-0404.2007.00836.x
-
Finsterer J: Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand 2007;116: 1-14. (Pubitemid 46976273)
-
(2007)
Acta Neurologica Scandinavica
, vol.116
, Issue.1
, pp. 1-14
-
-
Finsterer, J.1
-
50
-
-
0035032066
-
WFS1/wolframin mutations, wolfram syndrome, and associated diseases
-
DOI 10.1002/humu.1110
-
Khanim F, Kirk J, Latif F, Barrett TG: WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357-367. (Pubitemid 32381669)
-
(2001)
Human Mutation
, vol.17
, Issue.5
, pp. 357-367
-
-
Khanim, F.1
Kirk, J.2
Latif, F.3
Barrett, T.G.4
-
52
-
-
43249107825
-
Cochlear implantation results in patients with Kearns-Sayre syndrome
-
DOI 10.1097/01.aud.0000310791.83193.62, PII 0000344620080600000014
-
Pijl S, Westerberg BD: Cochlear implantation results in patients with Kearns- Sayre syndrome. Ear Hear 2008;29:472-475. (Pubitemid 351652241)
-
(2008)
Ear and Hearing
, vol.29
, Issue.3
, pp. 472-475
-
-
Pijl, S.1
Westerberg, B.D.2
-
53
-
-
0036710194
-
Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions
-
DOI 10.1016/S0887-8994(02)00426-5, PII S0887899402004265
-
Marin- Garcia J, Goldenthal MJ, Flores- Sarnat L, Sarnat HB: Severe mitochondrial cytopathy with complete A- V block, PEO, and mtDNA deletions. Pediatr Neurol 2002;27:213-216. (Pubitemid 35254128)
-
(2002)
Pediatric Neurology
, vol.27
, Issue.3
, pp. 213-216
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
Flores-Sarnat, L.3
Sarnat, H.B.4
-
54
-
-
58149159261
-
Mitochondrial oxidative phosphorylation disorders presenting in neonates: Clinical manifestations and enzymatic and molecular diagnoses
-
Gibson K, Halliday JL, Kirby DM, Yaplito- Lee J, Thorburn DR, Boneh A: Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 2008;122:1003-1008.
-
(2008)
Pediatrics
, vol.122
, pp. 1003-1008
-
-
Gibson, K.1
Halliday, J.L.2
Kirby, D.M.3
Yaplito-Lee, J.4
Thorburn, D.R.5
Boneh, A.6
-
55
-
-
72649098330
-
Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses
-
Wold SM, Derkay CS, Darrow DH, Proud V: Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2010;74:27-31.
-
(2010)
Int. J. Pediatr. Otorhinolaryngol.
, vol.74
, pp. 27-31
-
-
Wold, S.M.1
Derkay, C.S.2
Darrow, D.H.3
Proud, V.4
-
56
-
-
59449100963
-
Mucopolysaccharidosis I: Management and treatment guidelines
-
Muenzer J, Wraith JE, Clarke LA: Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics 2009;123:19-29.
-
(2009)
Pediatrics
, vol.123
, pp. 19-29
-
-
Muenzer, J.1
Wraith, J.E.2
Clarke, L.A.3
-
57
-
-
76449084511
-
Valvular heart disease in osteogenesis imperfecta: Presentation of a case and review of the literature
-
Bonita RE, Cohen IS, Berko BA: Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. Echocardiography 2010; 27:69-73.
-
(2010)
Echocardiography
, vol.27
, pp. 69-73
-
-
Bonita, R.E.1
Cohen, I.S.2
Berko, B.A.3
|