-
1
-
-
77957216101
-
Hereditary deformities in man due to arrested development
-
Adams FH, Oliver CP: Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-7.
-
(1945)
J. Hered.
, vol.36
, pp. 3-7
-
-
Adams, F.H.1
Oliver, C.P.2
-
2
-
-
0023732558
-
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): Report of ten cases and review of the literature
-
Kuster W, Lenz W, Kaariainen H, and Majewski F: Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. Am J Med Genet 1988; 31: 99-115.
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 99-115
-
-
Kuster, W.1
Lenz, W.2
Kaariainen, H.3
Majewski, F.4
-
3
-
-
0022355819
-
Aplasia cutis congenita: A report of 12 new families and review of the literature
-
Sybert VP: Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol 1985; 3: 1-14.
-
(1985)
Pediatr. Dermatol.
, vol.3
, pp. 1-14
-
-
Sybert, V.P.1
-
4
-
-
0023833156
-
Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - McKusick 10030): Further suggestion of autosomal recessive inheritance
-
Koiffmann CP, Wajntal A, Huyke BJ, Castro RM: Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 1988; 29: 263-268.
-
(1988)
Am. J. Med. Genet.
, vol.29
, pp. 263-268
-
-
Koiffmann, C.P.1
Wajntal, A.2
Huyke, B.J.3
Castro, R.M.4
-
5
-
-
0024518946
-
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome -McKusick 10030): Further suggestion of autosomal recessive inheritance
-
Sybert VP: Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome -McKusick 10030): further suggestion of autosomal recessive inheritance. Am J Med Genet 1989; 32: 266-267.
-
(1989)
Am. J. Med. Genet.
, vol.32
, pp. 266-267
-
-
Sybert, V.P.1
-
6
-
-
0032791685
-
Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome
-
Tekin M, Bodurtha J, Ciftci E, Arsan S: Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome. Am J Med Genet 1999; 86: 90-91.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 90-91
-
-
Tekin, M.1
Bodurtha, J.2
Ciftci, E.3
Arsan, S.4
-
7
-
-
0034951392
-
Adams-Oliver syndrome: Further evidence for autosomal recessive inheritance
-
Unay B, Sarici SU, Gul D, Akin R, Gokcay E: Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. Clin Dysmorphol 2001; 10: 223-225.
-
(2001)
Clin. Dysmorphol.
, vol.10
, pp. 223-225
-
-
Unay, B.1
Sarici, S.U.2
Gul, D.3
Akin, R.4
Gokcay, E.5
-
8
-
-
0034074417
-
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
-
Wilkie AO, Tang Z, Elanko N et al. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 2000; 24: 387-390.
-
(2000)
Nat. Genet.
, vol.24
, pp. 387-390
-
-
Wilkie, A.O.1
Tang, Z.2
Elanko, N.3
-
9
-
-
0034192384
-
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
-
Wuyts W, Reardon W, Preis S et al. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 2000; 9: 1251-1255.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1251-1255
-
-
Wuyts, W.1
Reardon, W.2
Preis, S.3
-
10
-
-
0034530307
-
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna OMIM 168500)
-
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van HW: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000; 37: 916-920.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 916-920
-
-
Wuyts, W.1
Cleiren, E.2
Homfray, T.3
Rasore-Quartino, A.4
Vanhoenacker, F.5
Van, H.W.6
-
11
-
-
0035158663
-
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
-
Mavrogiannis LA, Antonopoulou I, Baxova A et al. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 2001; 27: 17-18.
-
(2001)
Nat. Genet.
, vol.27
, pp. 17-18
-
-
Mavrogiannis, L.A.1
Antonopoulou, I.2
Baxova, A.3
-
12
-
-
17344377200
-
Lacunar changes in the parietal bones. Observations on 75 members of a family with an increased occurrece of parietal foramia
-
Schmidt-Wittkamp E, Christians H: Lacunar changes in the parietal bones. Observations on 75 members of a family with an increased occurrece of parietal foramia. Fortschr Geb Rontgenstr Nuklearmed 1970; 113: 29-38.
-
(1970)
Fortschr. Geb. Rontgenstr. Nuklearmed.
, vol.113
, pp. 29-38
-
-
Schmidt-Wittkamp, E.1
Christians, H.2
-
13
-
-
0023094305
-
Familial incidence of foramina parietalia permagna
-
Zabek M: Familial incidence of foramina parietalia permagna. Neurochirurgia (Stuttg) 1987; 30: 25-27.
-
(1987)
Neurochirurgia (Stuttg)
, vol.30
, pp. 25-27
-
-
Zabek, M.1
-
14
-
-
0025307712
-
Hereditary cranium bifidum and symmetric parietal foramina are the same entity
-
Little BB, Knoll KA, Klein VR, Heller KB: Hereditary cranium bifidum and symmetric parietal foramina are the same entity. Am J Med Genet 1990; 35: 453-458.
-
(1990)
Am. J. Med. Genet.
, vol.35
, pp. 453-458
-
-
Little, B.B.1
Knoll, K.A.2
Klein, V.R.3
Heller, K.B.4
-
15
-
-
0027431005
-
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
-
Jabs EW, Muller U, Li X et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993; 75: 443-450.
-
(1993)
Cell
, vol.75
, pp. 443-450
-
-
Jabs, E.W.1
Muller, U.2
Li, X.3
-
16
-
-
0030782397
-
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
-
Qu S, Niswender KD, Ji Q et al. Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 1997; 124: 3999-4008.
-
(1997)
Development
, vol.124
, pp. 3999-4008
-
-
Qu, S.1
Niswender, K.D.2
Ji, Q.3
-
17
-
-
0034029571
-
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
-
Satokata I, Ma L, Ohshima H et al. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet 2000; 24: 391-395.
-
(2000)
Nat. Genet.
, vol.24
, pp. 391-395
-
-
Satokata, I.1
Ma, L.2
Ohshima, H.3
-
18
-
-
0031796657
-
Adams-Oliver syndrome associated with cardiovascular malformations
-
Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB: Adams-Oliver syndrome associated with cardiovascular malformations. Clin Dysmorphol 1998; 7: 235-241.
-
(1998)
Clin. Dysmorphol.
, vol.7
, pp. 235-241
-
-
Lin, A.E.1
Westgate, M.N.2
van der Velde, M.E.3
Lacro, R.V.4
Holmes, L.B.5
-
19
-
-
10144253124
-
Positional cloning of a gene involved in hereditary multiple exostoses
-
Wuyts W, Van HW, Wauters J et al. Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 1996; 5: 1547-1557.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1547-1557
-
-
Wuyts, W.1
Van, H.W.2
Wauters, J.3
-
21
-
-
0028155872
-
Adams-Oliver syndrome: A family with extreme variability in clinical expression
-
Bamforth JS, Kaurah P, Byrne J, Ferreira P: Adams-Oliver syndrome: a family with extreme variability in clinical expression. Am J Med Genet 1994; 49: 393-396.
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 393-396
-
-
Bamforth, J.S.1
Kaurah, P.2
Byrne, J.3
Ferreira, P.4
-
22
-
-
0019960855
-
Vascular pathogenesis of transverse limb reduction defects
-
Hoyme HE, Jones KL, Van AM, Saunders BS, Benirschke K: Vascular pathogenesis of transverse limb reduction defects. J Pediatr 1982; 101: 839-843.
-
(1982)
J. Pediatr.
, vol.101
, pp. 839-843
-
-
Hoyme, H.E.1
Jones, K.L.2
Van, A.M.3
Saunders, B.S.4
Benirschke, K.5
-
23
-
-
0024697392
-
Limb defects with cutis marmorata teleangiectatica congenita: Adams-Oliver syndrome
-
Koster W: Limb defects with cutis marmorata teleangiectatica congenita: Adams-Oliver syndrome. Acta Paediatr Scand 1989; 78: 627-628.
-
(1989)
Acta. Paediatr. Scand.
, vol.78
, pp. 627-628
-
-
Koster, W.1
-
24
-
-
0026708766
-
Multifocal aplasia cutis congenita, distal limb hemimelia and cutis marmorata telangiectatica in a patient with Adams -Oliver syndrome
-
Bork K, Pfeifle J: Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams -Oliver syndrome. Br J Dermatol 1992; 12 7: 160-163.
-
(1992)
Br. J. Dermatol.
, vol.127
, pp. 160-163
-
-
Bork, K.1
Pfeifle, J.2
-
25
-
-
0027248564
-
Adams-Oliver syndrome: Cutis marmorata teleangiectatica congenita with multiple anomalies
-
Frank RA, Frosch PJ: Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies. Dermatology 1993; 187: 205-208.
-
(1993)
Dermatology
, vol.187
, pp. 205-208
-
-
Frank, R.A.1
Frosch, P.J.2
-
26
-
-
0028719335
-
Adams-Oliver syndrome: Aplasia cutis congenita terminal transverse limb defects and cutis marmorata telangiectatica congenita
-
Dyall-Smith D, Ramsden A, Laurie S: Adams-Oliver syndrome: aplasia cutis congenita, terminal transverse limb defects and cutis marmorata telangiectatica congenita. Australas J Dermatol 1994; 35: 19-22.
-
(1994)
Australas J. Dermatol.
, vol.35
, pp. 19-22
-
-
Dyall-Smith, D.1
Ramsden, A.2
Laurie, S.3
-
27
-
-
0030452946
-
Congenital scalp defect distal limb reduction anomalies right spastic hemiplegia and hypoplasia of the left arteria cerebri media Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome
-
Fryns JP, Legius E, Demaerel P, van den Berghe H: Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome. Clin Genet 1996; 50: 505-509.
-
(1996)
Clin. Genet.
, vol.50
, pp. 505-509
-
-
Fryns, J.P.1
Legius, E.2
Demaerel, P.3
van den Berghe, H.4
-
29
-
-
0032844582
-
The concurrence of ring constrictions in Adams-Oliver syndrome: Additional evidence for vascular disruption as common pathogenetic mechanism
-
Keymolen K, De S, Bracke P, Fryns JP: The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism. Genet Couns 1999; 10: 295-300.
-
(1999)
Genet. Couns.
, vol.10
, pp. 295-300
-
-
Keymolen, K.1
De, S.2
Bracke, P.3
Fryns, J.P.4
-
31
-
-
0029067515
-
Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family
-
Preis S, Engelbrecht V, Lenard FIG: Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family. Acta Paediatr 1995; 84: 701-702.
-
(1995)
Acta. Paediatr.
, vol.84
, pp. 701-702
-
-
Preis, S.1
Engelbrecht, V.2
Lenard, F.I.G.3
|