-
1
-
-
0025086847
-
A distinctive triad malformations of the central nervous system in the Meckel-Grüber syndrome
-
Ahdab-Barmada M, Claasen D (1990) A distinctive triad malformations of the central nervous system in the Meckel-Grüber syndrome. J Neuropathol Exp Neurol 49:610-620
-
(1990)
J Neuropathol Exp Neurol
, vol.49
, pp. 610-620
-
-
Ahdab-Barmada, M.1
Claasen, D.2
-
2
-
-
84940619318
-
Cerebellocele and associated central nervous system anomalies in the Meckel syndrome
-
Aleksic S, Budzilovich G, Greco MA, Reuben R, Feiginn I, Pearson J, Epstein F (1984) Cerebellocele and associated central nervous system anomalies in the Meckel syndrome. Childs Brain 11:99-111
-
(1984)
Childs Brain
, vol.11
, pp. 99-111
-
-
Aleksic, S.1
Budzilovich, G.2
Greco, M.A.3
Reuben, R.4
Feiginn, I.5
Pearson, J.6
Epstein, F.7
-
3
-
-
0023464391
-
Pathology of renal and hepatic anomalies in Meckel syndrome
-
Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE (1987) Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Genet Suppl 3:395-410
-
(1987)
Am J Med Genet Suppl
, vol.3
, pp. 395-410
-
-
Blankenberg, T.A.1
Ruebner, B.H.2
Ellis, W.G.3
Bernstein, J.4
Dimmick, J.E.5
-
4
-
-
0018103079
-
Meckel's syndrome (dysencephalia slanchnocystica) in two Pakistani sibs
-
Crawford A, Jackson P, Kolher GH (1978) Meckel's syndrome (dysencephalia slanchnocystica) in two Pakistani sibs. J Med Genet 15:242-245
-
(1978)
J Med Genet
, vol.15
, pp. 242-245
-
-
Crawford, A.1
Jackson, P.2
Kolher, G.H.3
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
6
-
-
0030845970
-
Neuropathologie foetale
-
Encha-Razavi F (1997) Neuropathologie foetale. Ann Pathol 17:281-286
-
(1997)
Ann Pathol
, vol.17
, pp. 281-286
-
-
Encha-Razavi, F.1
-
7
-
-
0019447461
-
Spectrum of anomalies in the Meckel syndrome; or, "Maybe there is a malformation syndrome with at least one constant anomaly?"
-
Fraser FC, Lytwyn A (1981) Spectrum of anomalies in the Meckel syndrome; or, "Maybe there is a malformation syndrome with at least one constant anomaly?" Am J Med Genet 9:67-73
-
(1981)
Am J Med Genet
, vol.9
, pp. 67-73
-
-
Fraser, F.C.1
Lytwyn, A.2
-
8
-
-
0027202377
-
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly
-
Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzonni G, Cotugno G, Neri MEM (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. Am J Med Genet 47:50-53
-
(1993)
Am J Med Genet
, vol.47
, pp. 50-53
-
-
Genuardi, M.1
Dionisi-Vici, C.2
Sabetta, G.3
Mignozzi, M.4
Rizzonni, G.5
Cotugno, G.6
Neri, M.E.M.7
-
9
-
-
0018931891
-
CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome)
-
Hori A, Orthner H, Kohlschutter A, Schott KM, Hirabayashi K, Shimokawa K (1980) CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome). Acta Neuropathol 51:93-97
-
(1980)
Acta Neuropathol
, vol.51
, pp. 93-97
-
-
Hori, A.1
Orthner, H.2
Kohlschutter, A.3
Schott, K.M.4
Hirabayashi, K.5
Shimokawa, K.6
-
10
-
-
0026007134
-
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct syndrome?
-
Hunter AG, Jimenez C, Tawagi FG (1991) Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? Am J Med Genet 4:201-207
-
(1991)
Am J Med Genet
, vol.4
, pp. 201-207
-
-
Hunter, A.G.1
Jimenez, C.2
Tawagi, F.G.3
-
11
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
12
-
-
0023239442
-
Homozygosity mapping: A new way to map recessive trait with the DNA of inbred children
-
Lander ES, Botstein D (1987) Homozygosity mapping: a new way to map recessive trait with the DNA of inbred children. Science 236:1567-1570
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
14
-
-
0015076780
-
Encephalocele, polycystic kidneys and polydactyly as an autosomal recessive trait simulating certain other disorders: The Meckel syndrome
-
Mecke S, Passarge E (1971) Encephalocele, polycystic kidneys and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet 14:97-103
-
(1971)
Ann Genet
, vol.14
, pp. 97-103
-
-
Mecke, S.1
Passarge, E.2
-
15
-
-
0002584179
-
Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister
-
Meckel JF (1822) Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 7:99-172
-
(1822)
Dtsch Arch Physiol
, vol.7
, pp. 99-172
-
-
Meckel, J.F.1
-
16
-
-
0031081370
-
A 5,5 megabase high resolution integrated map of distal 11q13
-
Merscher S, Bekri S, de Leeuw B, Pedeutour F, Grosgeorge J, Show STD, Müllenbach R, et al (1997) A 5,5 megabase high resolution integrated map of distal 11q13. Genomics 39: 340-347
-
(1997)
Genomics
, vol.39
, pp. 340-347
-
-
Merscher, S.1
Bekri, S.2
De Leeuw, B.3
Pedeutour, F.4
Grosgeorge, J.5
Show, S.T.D.6
Müllenbach, R.7
-
17
-
-
0027324556
-
Goldston syndrome reconsidered
-
Moerman PH, Pauwels P, Van den Berghe K, Lauweryns MS, Fryns JP (1993) Goldston syndrome reconsidered. Genet Couns 4:97-102
-
(1993)
Genet Couns
, vol.4
, pp. 97-102
-
-
Moerman, P.H.1
Pauwels, P.2
Van Den Berghe, K.3
Lauweryns, M.S.4
Fryns, J.P.5
-
18
-
-
0003408936
-
-
John Hopkins University Press, Baltimore and London
-
Ott J (1985) Analysis of human genetic linkage. John Hopkins University Press, Baltimore and London
-
(1985)
Analysis of Human Genetic Linkage
-
-
Ott, J.1
-
19
-
-
0031440348
-
Clinical and genetic heterogeneity in Meckel syndrome
-
Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, et al (1997) Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 101:88-92
-
(1997)
Hum Genet
, vol.101
, pp. 88-92
-
-
Paavola, P.1
Salonen, R.2
Baumer, A.3
Schinzel, A.4
Boyd, P.A.5
Gould, S.6
Meusburger, H.7
-
20
-
-
0028980029
-
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
-
Paavola P, Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11: 213-215
-
(1995)
Nat Genet
, vol.11
, pp. 213-215
-
-
Paavola, P.1
Salonen, R.2
Weissenbach, J.3
Peltonen, L.4
-
21
-
-
1642593112
-
Physical mapping of the Meckel syndrome at 17q21-q24
-
_ (1996a) Physical mapping of the Meckel syndrome at 17q21-q24. Eur J Hum Genet 4, Suppl 1:66
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.SUPPL. 1
, pp. 66
-
-
-
22
-
-
85031587551
-
Towards the molecular pathogenesis of Meckel syndrome, a lethal malformation syndrome of the fetus: Physical mapping and analysis of candidate genes
-
Manchester, UK, October 8-11
-
_ (1996b) Towards the molecular pathogenesis of Meckel syndrome, a lethal malformation syndrome of the fetus: physical mapping and analysis of candidate genes. Paper presented at the seventh Birth Defects Manchester Conference, Manchester, UK, October 8-11
-
(1996)
Seventh Birth Defects Manchester Conference
-
-
-
23
-
-
0030731439
-
Expression and interaction of the two closely related homeobox genes PHOX2a and PHOX2b during neurogenesis
-
Pattyn A, Morin X, Goridis C, Brunet JF (1997) Expression and interaction of the two closely related homeobox genes PHOX2a and PHOX2b during neurogenesis. Development 124:4065-4075
-
(1997)
Development
, vol.124
, pp. 4065-4075
-
-
Pattyn, A.1
Morin, X.2
Goridis, C.3
Brunet, J.F.4
-
24
-
-
0019774003
-
Le syndrome de Meckel: Sa variabilité d'expression peut faire obstacle au diagnostic prénatal
-
Plauchu H, Kemlin I, Bouvier R, Robert JM (1981) Le syndrome de Meckel: sa variabilité d'expression peut faire obstacle au diagnostic prénatal. J Genet Hum 29:431-440
-
(1981)
J Genet Hum
, vol.29
, pp. 431-440
-
-
Plauchu, H.1
Kemlin, I.2
Bouvier, R.3
Robert, J.M.4
-
25
-
-
0030774058
-
Genetic heterogeneity in Meckel syndrome
-
Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A (1997) Genetic heterogeneity in Meckel syndrome. J Med Genet 34:1003-1006
-
(1997)
J Med Genet
, vol.34
, pp. 1003-1006
-
-
Roume, J.1
Ma, H.W.2
Le Merrer, M.3
Cormier-Daire, V.4
Girlich, D.5
Genin, E.6
Munnich, A.7
-
26
-
-
0021280772
-
The Meckel syndrome: Clinicopathological findings in 67 patients
-
Salonen R (1984) The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 18:671-689
-
(1984)
Am J Med Genet
, vol.18
, pp. 671-689
-
-
Salonen, R.1
-
27
-
-
0021253299
-
The Meckel syndrome in Finland: Epidemiologic and genetic aspects
-
Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 18: 691-698
-
(1984)
Am J Med Genet
, vol.18
, pp. 691-698
-
-
Salonen, R.1
Norio, R.2
-
28
-
-
0019416725
-
Phenotypic variation in Meckel syndrome
-
Seller MJ (1981) Phenotypic variation in Meckel syndrome. Clin Genet 20:74-77
-
(1981)
Clin Genet
, vol.20
, pp. 74-77
-
-
Seller, M.J.1
-
29
-
-
0001395571
-
Testing for heterogeneity of recombination values in human genetics
-
Smith CAB (1963) Testing for heterogeneity of recombination values in human genetics. Ann Hum Genet 27:175-182
-
(1963)
Ann Hum Genet
, vol.27
, pp. 175-182
-
-
Smith, C.A.B.1
-
30
-
-
0026723476
-
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome
-
Verloes A, Gillerot Y, Langhendries JP, Fryns JP, Koulischer I (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet 43:669-677
-
(1992)
Am J Med Genet
, vol.43
, pp. 669-677
-
-
Verloes, A.1
Gillerot, Y.2
Langhendries, J.P.3
Fryns, J.P.4
Koulischer, I.5
-
31
-
-
0025897140
-
Dandy-Walker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: A distinct entity or Meckel syndrome?
-
Walpole IR, Goldblatt J, Hockey A, Knowles A (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: a distinct entity or Meckel syndrome? Am J Med Genet 39:294-298
-
(1991)
Am J Med Genet
, vol.39
, pp. 294-298
-
-
Walpole, I.R.1
Goldblatt, J.2
Hockey, A.3
Knowles, A.4
-
32
-
-
0028275502
-
Meckel syndrome: What are the minimum diagnostic criteria?
-
Wright C, Healicon R, English C, Burn J (1994) Meckel syndrome: what are the minimum diagnostic criteria? J Med Genet 31:482-485
-
(1994)
J Med Genet
, vol.31
, pp. 482-485
-
-
Wright, C.1
Healicon, R.2
English, C.3
Burn, J.4
-
33
-
-
0030972227
-
Genetic disorders among Palestinian Arabs. II. Hydrocephalus and neural tube defects
-
Zlotogora J (1997) Genetic disorders among Palestinian Arabs. II. Hydrocephalus and neural tube defects. Am J Med Genet 71:33-35
-
(1997)
Am J Med Genet
, vol.71
, pp. 33-35
-
-
Zlotogora, J.1
|