-
1
-
-
33846785380
-
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?
-
Part A
-
Al Kaissi A, Klaushofer K, Safi H, Chehida FB, Ghachem MB, Chaabounni M, Hennekam RCM. 2007. Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?. Am J Med Genet Part A 143A:349-354.
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 349-354
-
-
Al Kaissi, A.1
Klaushofer, K.2
Safi, H.3
Chehida, F.B.4
Ghachem, M.B.5
Chaabounni, M.6
Hennekam, R.C.M.7
-
2
-
-
33644829154
-
Stops along the RAS pathway in human genetic disease
-
Bentires-Alj M, Kontaridis MI, Neel BG. 2006. Stops along the RAS pathway in human genetic disease. Nat Med 12:283-285.
-
(2006)
Nat Med
, vol.12
, pp. 283-285
-
-
Bentires-Alj, M.1
Kontaridis, M.I.2
Neel, B.G.3
-
3
-
-
0024395276
-
Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs
-
Carnevale F, Krajewska G, Fischetto R, Greco MG, Bonvino A. 1989. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet 33:186-189.
-
(1989)
Am J Med Genet
, vol.33
, pp. 186-189
-
-
Carnevale, F.1
Krajewska, G.2
Fischetto, R.3
Greco, M.G.4
Bonvino, A.5
-
4
-
-
0029564715
-
Malpuech facial clefting syndrome in a Japanese boy with cardiac defects
-
Chinen Y, Naritomi K. 1995. Malpuech facial clefting syndrome in a Japanese boy with cardiac defects. Jpn J Hum Genet 40:335-338.
-
(1995)
Jpn J Hum Genet
, vol.40
, pp. 335-338
-
-
Chinen, Y.1
Naritomi, K.2
-
6
-
-
0025160698
-
Craniosynostosis and lid anomalies: Report of a girl with Michels syndrome
-
Cunniff C, Jones KL. 1990. Craniosynostosis and lid anomalies: Report of a girl with Michels syndrome. Am J Med Genet 37:28-30.
-
(1990)
Am J Med Genet
, vol.37
, pp. 28-30
-
-
Cunniff, C.1
Jones, K.L.2
-
7
-
-
0025942015
-
A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome)
-
De La Paz M, Lewis RA, Patrinely JR, Merin L, Greenberg F. 1991. A sibship with unusual anomalies of the eye and skeleton (Michels' syndrome). Am J Ophthal 112:572-580.
-
(1991)
Am J Ophthal
, vol.112
, pp. 572-580
-
-
De La Paz, M.1
Lewis, R.A.2
Patrinely, J.R.3
Merin, L.4
Greenberg, F.5
-
8
-
-
0029093610
-
Apparent Malpuech syndrome: Report on three Brazilian patients with additional signs
-
Guion-Almeida ML. 1995. Apparent Malpuech syndrome: Report on three Brazilian patients with additional signs. Am J Med Genet 58:13-17.
-
(1995)
Am J Med Genet
, vol.58
, pp. 13-17
-
-
Guion-Almeida, M.L.1
-
9
-
-
0029037868
-
Michels syndrome in a Brazilian girl born to consanguineous parents
-
Guion-Almeida ML, Rodini ESO. 1995. Michels syndrome in a Brazilian girl born to consanguineous parents. Am J Med Genet 57:377-379.
-
(1995)
Am J Med Genet
, vol.57
, pp. 377-379
-
-
Guion-Almeida, M.L.1
Rodini, E.S.O.2
-
10
-
-
33646206790
-
Malpuech syndrome and ocular-skeletal-abdominal abnormalities (OSA syndrome) are the same: Case Report
-
Hall B. 2004. Malpuech syndrome and ocular-skeletal-abdominal abnormalities (OSA syndrome) are the same: Case Report. Am J Hum Genet 75:A675.
-
(2004)
Am J Hum Genet
, vol.75
-
-
Hall, B.1
-
11
-
-
18044382163
-
Malpuech syndrome: Three patients and a review
-
Kerstjens-Frederikse WS, Brunner HG, Van Dael CML, Van Essen AJ. 2005. Malpuech syndrome: Three patients and a review. Am J Med Genet Part A 134A:450-453.
-
(2005)
Am J Med Genet
, vol.134 A
, Issue.PART A
, pp. 450-453
-
-
Kerstjens-Frederikse, W.S.1
Brunner, H.G.2
Van Dael, C.M.L.3
Van Essen, A.J.4
-
12
-
-
35948955183
-
Three additional cases of the Michels syndrome
-
Leal GF, Baptista EVP. 2007. Three additional cases of the Michels syndrome. Am J Med Genet Part A 143A:2747-2750.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 2747-2750
-
-
Leal, G.F.1
Baptista, E.V.P.2
-
13
-
-
0021015544
-
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
-
Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P. 1983. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies. Am J Med Genet 16:475-480.
-
(1983)
Am J Med Genet
, vol.16
, pp. 475-480
-
-
Malpuech, G.1
Demeocq, F.2
Palcoux, J.B.3
Vanlieferinghen, P.4
-
14
-
-
0017847654
-
A clefting syndrome with ocular anterior chamber defect and lid anomalies
-
Michels VV, Hittner HM, Beaudet AL. 1978. A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr 93:444-446.
-
(1978)
J Pediatr
, vol.93
, pp. 444-446
-
-
Michels, V.V.1
Hittner, H.M.2
Beaudet, A.L.3
-
15
-
-
19244362483
-
Two sisters with a syndrome of ocular, skeletal, and abdominal anomalies (OSA syndrome)
-
Mingarelli R, Scanderbeg AC, Dallapiccola B. 1996. Two sisters with a syndrome of ocular, skeletal, and abdominal anomalies (OSA syndrome). J Med Genet 33:884-886.
-
(1996)
J Med Genet
, vol.33
, pp. 884-886
-
-
Mingarelli, R.1
Scanderbeg, A.C.2
Dallapiccola, B.3
-
16
-
-
24344469987
-
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?
-
Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A. 2005. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?. Am J Med Genet Part A 137A:332-335.
-
(2005)
Am J Med Genet
, vol.137 A
, Issue.PART A
, pp. 332-335
-
-
Titomanlio, L.1
Bennaceur, S.2
Bremond-Gignac, D.3
Baumann, C.4
Dupuy, O.5
Verloes, A.6
|