-
1
-
-
0000008683
-
Dominant hereditary acrocephalosyndactylia [in German]
-
Pfeiffer RA. Dominant hereditary acrocephalosyndactylia [in German]. Z Kinderheilkd 1964;90:301-320
-
(1964)
Z Kinderheilkd
, vol.90
, pp. 301-320
-
-
Pfeiffer, R.A.1
-
4
-
-
0032559241
-
Pfeiffer syndrome type 2: Further delineation and review of the literature
-
Plomp AS, Hamel BC, Cobben JM, et al. Pfeiffer syndrome type 2: further delineation and review of the literature. Am J Med Genet 1998;75:245-251
-
(1998)
Am J Med Genet
, vol.75
, pp. 245-251
-
-
Plomp, A.S.1
Hamel, B.C.2
Cobben, J.M.3
-
6
-
-
0027476349
-
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
-
Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993;45:300-307
-
(1993)
Am J Med Genet
, vol.45
, pp. 300-307
-
-
Cohen Jr., M.M.1
-
9
-
-
0031203577
-
Oxycephaly a severe craniosynostosis. Apropos of a series of 129 cases [in French]
-
Renier D, Cinalli G, Lajeunie E, et al. Oxycephaly, a severe craniosynostosis. Apropos of a series of 129 cases [in French]. Arch Pediatr 1997;4:722-729
-
(1997)
Arch Pediatr
, vol.4
, pp. 722-729
-
-
Renier, D.1
Cinalli, G.2
Lajeunie, E.3
-
11
-
-
0029101376
-
Chronic tonsillar herniation in Crouzon's and Apert's syndromes: The role of premature synostosis of the lambdoid suture
-
Cinalli G, Renier D, Sebag G, et al. Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 1995;83:575-582
-
(1995)
J Neurosurg
, vol.83
, pp. 575-582
-
-
Cinalli, G.1
Renier, D.2
Sebag, G.3
-
12
-
-
0009837288
-
Chiari malformation (chronic tonsillar herniation) and syringomelia in Crouzon's syndrome [in Japanese]
-
Shigeta H, Sakai K. Chiari malformation (chronic tonsillar herniation) and syringomelia in Crouzon's syndrome [in Japanese]. Nerv Syst Child 1996;21:395-401
-
(1996)
Nerv Syst Child
, vol.21
, pp. 395-401
-
-
Shigeta, H.1
Sakai, K.2
-
13
-
-
0022921082
-
The Arnold-Chiari malformation
-
Raynor RB. The Arnold-Chiari malformation. Spine 1986;11:343-344
-
(1986)
Spine
, vol.11
, pp. 343-344
-
-
Raynor, R.B.1
-
14
-
-
0037404516
-
Rapid development of Chiari i malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature
-
Hopkins TE, Haines SJ. Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature. J Neurosurg 2003;98:1113-1115
-
(2003)
J Neurosurg
, vol.98
, pp. 1113-1115
-
-
Hopkins, T.E.1
Haines, S.J.2
-
15
-
-
0027066120
-
Death from chronic tonsillar herniation in a patient with lumboperitoneal shunt and Crouzon's disease
-
Chumas PD, Drake JM, Del Bigio MR. Death from chronic tonsillar herniation in a patient with lumboperitoneal shunt and Crouzon's disease. Br J Neurosurg 1992;6:595-599
-
(1992)
Br J Neurosurg
, vol.6
, pp. 595-599
-
-
Chumas, P.D.1
Drake, J.M.2
Del Bigio, M.R.3
-
16
-
-
0027493890
-
Lumboperitoneal shunting: A retrospective study in the pediatric population
-
Chumas PD, Kulkarni AV, Drake JM, et al. Lumboperitoneal shunting: a retrospective study in the pediatric population. Neurosurgery 1993; 33:1115-1116
-
(1993)
Neurosurgery
, vol.33
, pp. 1115-1116
-
-
Chumas, P.D.1
Kulkarni, A.V.2
Drake, J.M.3
-
17
-
-
0017133572
-
Cephalocranial disproportion. A complication of the treatment of hydrocephalus in children
-
Hoffman HJ, Tucker WS. Cephalocranial disproportion. A complication of the treatment of hydrocephalus in children. Childs Brain 1976; 2:167-176
-
(1976)
Childs Brain
, vol.2
, pp. 167-176
-
-
Hoffman, H.J.1
Tucker, W.S.2
-
18
-
-
0028258721
-
Acquired Chiari malformations: Incidence, diagnosis, and management
-
Payner TD, Prenger E, Berger TS, et al. Acquired Chiari malformations: incidence, diagnosis, and management. Neurosurgery 1994;34: 429-434
-
(1994)
Neurosurgery
, vol.34
, pp. 429-434
-
-
Payner, T.D.1
Prenger, E.2
Berger, T.S.3
-
19
-
-
0019729306
-
Chiari i "malformations" Van acquired disorder?
-
Welch K, Shillito J, Strand R, et al. Chiari I "malformations" Van acquired disorder? J Neurosurg 1981;55:604-609
-
(1981)
J Neurosurg
, vol.55
, pp. 604-609
-
-
Welch, K.1
Shillito, J.2
Strand, R.3
-
20
-
-
0028282594
-
"Acquired" Chiari i malformation. Case report
-
Huang PP, Constantini S. "Acquired" Chiari I malformation. Case report. J Neurosurg 1994;80:1099-1102
-
(1994)
J Neurosurg
, vol.80
, pp. 1099-1102
-
-
Huang, P.P.1
Constantini, S.2
-
21
-
-
0027415348
-
"Acquired" Chiari i malformation after multiple lumbar punctures: Case report
-
Sathi S, Stieg PE. "Acquired" Chiari I malformation after multiple lumbar punctures: case report. Neurosurgery 1993;32:306-309
-
(1993)
Neurosurgery
, vol.32
, pp. 306-309
-
-
Sathi, S.1
Stieg, P.E.2
-
22
-
-
0033508577
-
Intracranial volume change in craniosynostosis
-
Sgouros S, Hockley AD, Goldin JH, et al. Intracranial volume change in craniosynostosis. J Neurosurg 1999;91:617-625
-
(1999)
J Neurosurg
, vol.91
, pp. 617-625
-
-
Sgouros, S.1
Hockley, A.D.2
Goldin, J.H.3
-
26
-
-
0017253917
-
Chronic tonsillar herniation: An attempt at classifying chronic hernitations at the foramen magnum
-
Friede RL, Roessmann U. Chronic tonsillar herniation: an attempt at classifying chronic hernitations at the foramen magnum. Acta Neuropathol 1976;34:219-235
-
(1976)
Acta Neuropathol
, vol.34
, pp. 219-235
-
-
Friede, R.L.1
Roessmann, U.2
-
27
-
-
0019455844
-
Morphogenesis of experimentally induced Arnold-Chiari malformation
-
Marin-Padilla M, Marin-Padilla TM. Morphogenesis of experimentally induced Arnold-Chiari malformation. J Neurol Sci 1981;50:29-55
-
(1981)
J Neurol Sci
, vol.50
, pp. 29-55
-
-
Marin-Padilla, M.1
Marin-Padilla, T.M.2
-
28
-
-
0031024218
-
Pathogenesis of Chiari malformation: A morphometric study of the posterior cranial fossa
-
Nishikawa M, Sakamoto H, Hakuba A, et al. Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 1997;86:40-47
-
(1997)
J Neurosurg
, vol.86
, pp. 40-47
-
-
Nishikawa, M.1
Sakamoto, H.2
Hakuba, A.3
-
29
-
-
0017883575
-
Size of posterior fossa in Chiari type 1 malformation in adults
-
Nyland H, Krogness KG. Size of posterior fossa in Chiari type 1 malformation in adults. Acta Neurochir (Wien) 1978;40:233-242
-
(1978)
Acta Neurochir (Wien)
, vol.40
, pp. 233-242
-
-
Nyland, H.1
Krogness, K.G.2
-
30
-
-
0027452891
-
Posterior cranial fossa dimensions in the Chiari i malformation: Relation to pathogenesis and clinical presentation
-
Stovner LJ, Bergan U, Nilsen G, et al. Posterior cranial fossa dimensions in the Chiari I malformation: relation to pathogenesis and clinical presentation. Neuroradiology 1993;35:113-118
-
(1993)
Neuroradiology
, vol.35
, pp. 113-118
-
-
Stovner, L.J.1
Bergan, U.2
Nilsen, G.3
-
33
-
-
46949107825
-
Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation
-
Chen CP, Lin SP, Su YN, et al. Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation. Genet Couns 2008;19:165-172
-
(2008)
Genet Couns
, vol.19
, pp. 165-172
-
-
Chen, C.P.1
Lin, S.P.2
Su, Y.N.3
-
34
-
-
0032992570
-
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
-
Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999;104:425-431
-
(1999)
Hum Genet
, vol.104
, pp. 425-431
-
-
Cornejo-Roldan, L.R.1
Roessler, E.2
Muenke, M.3
-
35
-
-
0031024743
-
Mutation detection in FGFR2 craniosynostosis syndromes
-
Hollway GE, Suthers GK, Haan EA, et al. Mutation detection in FGFR2 craniosynostosis syndromes. Hum Genet 1997;99:251-255
-
(1997)
Hum Genet
, vol.99
, pp. 251-255
-
-
Hollway, G.E.1
Suthers, G.K.2
Haan, E.A.3
-
36
-
-
0034490156
-
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)
-
Kress W, Collmann H, Büsse M, et al. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet 2000;91:134-137
-
(2000)
Cytogenet Cell Genet
, vol.91
, pp. 134-137
-
-
Kress, W.1
Collmann, H.2
Büsse, M.3
-
37
-
-
0031781871
-
Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene
-
Mathijssen M, Vaandrager JM, Hoogeboom AJ, et al. Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. J Craniofac Surg 1998;9:207-209
-
(1998)
J Craniofac Surg
, vol.9
, pp. 207-209
-
-
Mathijssen, M.1
Vaandrager, J.M.2
Hoogeboom, A.J.3
-
38
-
-
0033924956
-
Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene
-
Priolo M, Lerone M, Baffico M, et al. Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. Clin Genet 2000;58:81-83
-
(2000)
Clin Genet
, vol.58
, pp. 81-83
-
-
Priolo, M.1
Lerone, M.2
Baffico, M.3
-
39
-
-
0029109137
-
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
-
Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995;9:173-176
-
(1995)
Nat Genet
, vol.9
, pp. 173-176
-
-
Rutland, P.1
Pulleyn, L.J.2
Reardon, W.3
-
40
-
-
0032559318
-
Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case
-
Schaefer F, Anderson C, Can B, et al. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet 1998;75:252-255
-
(1998)
Am J Med Genet
, vol.75
, pp. 252-255
-
-
Schaefer, F.1
Anderson, C.2
Can, B.3
-
41
-
-
0030609942
-
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
-
Tartaglia M, Valeri S, Velardi F, et al. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet 1997;99:602-606
-
(1997)
Hum Genet
, vol.99
, pp. 602-606
-
-
Tartaglia, M.1
Valeri, S.2
Velardi, F.3
-
42
-
-
0036134780
-
Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2
-
Teebi AS, Kennedy S, Chun K, et al. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet 2002;107:43-47
-
(2002)
Am J Med Genet
, vol.107
, pp. 43-47
-
-
Teebi, A.S.1
Kennedy, S.2
Chun, K.3
-
43
-
-
0033396747
-
Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2
-
Tsukuno M, Suzuki H, Eto Y. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2. J Craniofac Genet Dev Biol 1999;19:183-188
-
(1999)
J Craniofac Genet Dev Biol
, vol.19
, pp. 183-188
-
-
Tsukuno, M.1
Suzuki, H.2
Eto, Y.3
-
44
-
-
0042367676
-
Craniosynostosis with tracheal sleeve: A patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found
-
Zachai EH, McDonald-McGinn DM, Stolle C, et al. Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found. Clin Dysmorphol 2003;12:209
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 209
-
-
Zachai, E.H.1
McDonald-Mcginn, D.M.2
Stolle, C.3
-
45
-
-
18144430766
-
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
-
Zankl A, Jaeger G, Bonafé L, et al. Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. Am J Med Genet A 2004;131:299-300
-
(2004)
Am J Med Genet A
, vol.131
, pp. 299-300
-
-
Zankl, A.1
Jaeger, G.2
Bonafé, L.3
-
47
-
-
0024347941
-
Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension
-
Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 1989; 71:42-48
-
(1989)
J Neurosurg
, vol.71
, pp. 42-48
-
-
Steinbok, P.1
Hall, J.2
Flodmark, O.3
-
48
-
-
6844222817
-
Aetiology of herniation of the hindbrain in craniosynostosis. An investigation incorporating intracranial pressure monitoring and magnetic resonance imaging
-
Thompson DN, Harkness W, Jones BM, et al. Aetiology of herniation of the hindbrain in craniosynostosis. An investigation incorporating intracranial pressure monitoring and magnetic resonance imaging. Pediatr Neurosurg 1997;26:288-295
-
(1997)
Pediatr Neurosurg
, vol.26
, pp. 288-295
-
-
Thompson, D.N.1
Harkness, W.2
Jones, B.M.3
-
49
-
-
0028989058
-
Lessons from a case of kleeblattschädel. Case report
-
Thompson DN, Hayward RD, Harkness W, et al. Lessons from a case of kleeblattschädel. Case report. J Neurosurg 1995;82:1071-1074
-
(1995)
J Neurosurg
, vol.82
, pp. 1071-1074
-
-
Thompson, D.N.1
Hayward, R.D.2
Harkness, W.3
-
53
-
-
0015061338
-
The concurrence of hydrocephalus and craniosynostosis
-
Fishman MA, Hogan GR, Dodge PR. The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 1971;34:621-629
-
(1971)
J Neurosurg
, vol.34
, pp. 621-629
-
-
Fishman, M.A.1
Hogan, G.R.2
Dodge, P.R.3
-
54
-
-
0026523903
-
Chronic tonsillar herniation and Crouzon's syndrome
-
Francis PM, Beals S, Rekate HL, et al. Chronic tonsillar herniation and Crouzon's syndrome. Pediatr Neurosurg 1992;18:202-206
-
(1992)
Pediatr Neurosurg
, vol.18
, pp. 202-206
-
-
Francis, P.M.1
Beals, S.2
Rekate, H.L.3
-
56
-
-
0029737993
-
Incidence of increased intracranial pressure after early surgical treatment of syndromic craniosynostosis
-
Pollack IF, Losken HW, Biglan AW. Incidence of increased intracranial pressure after early surgical treatment of syndromic craniosynostosis. Pediatr Neurosurg 1996;24:202-209
-
(1996)
Pediatr Neurosurg
, vol.24
, pp. 202-209
-
-
Pollack, I.F.1
Losken, H.W.2
Biglan, A.W.3
-
57
-
-
0021333894
-
Intracranial venous sinus hypertension: Cause or consequence of hydrocephalus in infants?
-
Sainte-Rose C, LaCombe J, Pierre-Kahn A, et al. Intracranial venous sinus hypertension: cause or consequence of hydrocephalus in infants? J Neurosurg 1984;60:727-736 (Pubitemid 14165105)
-
(1984)
Journal of Neurosurgery
, vol.60
, Issue.4
, pp. 727-736
-
-
Sainte-Rose, C.1
LaCombe, J.2
Pierre-Kahn, A.3
-
58
-
-
0025987557
-
The relationship of cloverleaf skull syndrome to hydrocephalus
-
Shiroyama Y, Ito H, Yamashita T, et al. The relationship of cloverleaf skull syndrome to hydrocephalus. Childs Nerv Syst 1991;7:383-385
-
(1991)
Childs Nerv Syst
, vol.7
, pp. 383-385
-
-
Shiroyama, Y.1
Ito, H.2
Yamashita, T.3
-
59
-
-
0033832563
-
MR venography in children with complex craniosynostosis
-
Rollins N, Booth T, Shapiro K. MR venography in children with complex craniosynostosis. Pediatr Neurosurg 2000;32:308-315
-
(2000)
Pediatr Neurosurg
, vol.32
, pp. 308-315
-
-
Rollins, N.1
Booth, T.2
Shapiro, K.3
-
60
-
-
0031931083
-
Acquired Chiari i malformation secondary to spontaneous spinal cerebrospinal fluid leakage and chronic intracranial hypotension syndrome in seven cases
-
Atkinson JL, Weinshenker BG, Miller GM, et al. Acquired Chiari I malformation secondary to spontaneous spinal cerebrospinal fluid leakage and chronic intracranial hypotension syndrome in seven cases. J Neurosurg 1998;88:237-242
-
(1998)
J Neurosurg
, vol.88
, pp. 237-242
-
-
Atkinson, J.L.1
Weinshenker, B.G.2
Miller, G.M.3
-
61
-
-
0031886796
-
Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation
-
Cinalli G, Chumas PD, Arnaud E, et al. Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation. Neurosurgery 1998;42:66-71
-
(1998)
Neurosurgery
, vol.42
, pp. 66-71
-
-
Cinalli, G.1
Chumas, P.D.2
Arnaud, E.3
|