-
1
-
-
0035501740
-
Pai syndrome: A report of a case and review of the literature
-
Al-Mazrou KA, Al-Rekabi A, Alorainy IA, Al-Kharfi T, Al-Serhani AM. 2001. Pai syndrome: A report of a case and review of the literature. Int J Pediatr Otorhinolaryngol 61:149-153.
-
(2001)
Int J Pediatr Otorhinolaryngol
, vol.61
, pp. 149-153
-
-
Al-Mazrou, K.A.1
Al-Rekabi, A.2
Alorainy, I.A.3
Al-Kharfi, T.4
Al-Serhani, A.M.5
-
3
-
-
0027522887
-
Median cleft of the lip: Its significance and surgical repair
-
Apesos J, Anigian GM. 1993. Median cleft of the lip: Its significance and surgical repair. Cleft Palate Craniofac J 30:94-96.
-
(1993)
Cleft Palate Craniofac J
, vol.30
, pp. 94-96
-
-
Apesos, J.1
Anigian, G.M.2
-
4
-
-
0032846175
-
A female patient with frontonasal dysplasia sequence and frontonasal encephalocele
-
Balci S, Mavili ME, Son YA, Vargel I, Benli K, Erk Y. 1999. A female patient with frontonasal dysplasia sequence and frontonasal encephalocele. Ann Plast Surg 43:457-459.
-
(1999)
Ann Plast Surg
, vol.43
, pp. 457-459
-
-
Balci, S.1
Mavili, M.E.2
Son, Y.A.3
Vargel, I.4
Benli, K.5
Erk, Y.6
-
5
-
-
0029806515
-
Frontonasal malformation and the oculoauriculovertebral spectmm: The oculoauriculofrontonasal syndrome
-
Casey HD, Braddock SR, Haskins RC, Carey JC, Morales L Jr. 1996. Frontonasal malformation and the oculoauriculovertebral spectmm: The oculoauriculofrontonasal syndrome. Cleft Palate Craniofac J 33:519-523.
-
(1996)
Cleft Palate Craniofac J
, vol.33
, pp. 519-523
-
-
Casey, H.D.1
Braddock, S.R.2
Haskins, R.C.3
Carey, J.C.4
Morales Jr., L.5
-
6
-
-
0028455629
-
An approach to work-up of dysmorphic patients: Clinical, cytogenetic, and molecular aspects
-
Chen H. 1994. An approach to work-up of dysmorphic patients: Clinical, cytogenetic, and molecular aspects. Keio J Med 43:98-107.
-
(1994)
Keio J Med
, vol.43
, pp. 98-107
-
-
Chen, H.1
-
8
-
-
0018636142
-
Craniofrontonasal dysplasia
-
Cohen MM Jr. 1979. Craniofrontonasal dysplasia. Birth Defects 15:85-89.
-
(1979)
Birth Defects
, vol.15
, pp. 85-89
-
-
Cohen Jr., M.M.1
-
10
-
-
0029448485
-
Hypertelorism: Interorbital growth, measurements, and pathogenetic considerations
-
Cohen MM Jr, Richieri-Costa A, Guion-Almeida ML, Saavedra D. 1995. Hypertelorism: Interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg 24:387-395.
-
(1995)
Int J Oral Maxillofac Surg
, vol.24
, pp. 387-395
-
-
Cohen Jr, M.M.1
Richieri-Costa, A.2
Guion-Almeida, M.L.3
Saavedra, D.4
-
11
-
-
0023143520
-
Frontonasal dysplasia associated with tetralogy of Fallot
-
De Moor MM, Baruch R, Human DG. 1987. Frontonasal dysplasia associated with tetralogy of Fallot. J Med Genet 24:107-109.
-
(1987)
J Med Genet
, vol.24
, pp. 107-109
-
-
De Moor, M.M.1
Baruch, R.2
Human, D.G.3
-
12
-
-
0014136944
-
The median cleft face syndrome
-
DeMyer W. 1967. The median cleft face syndrome. Neurology 17:961-971.
-
(1967)
Neurology
, vol.17
, pp. 961-971
-
-
DeMyer, W.1
-
13
-
-
0034637062
-
The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: A case report with CT scan findings and review of literature
-
Dubey SP, Garap JP. 2000. The syndrome of frontonasal dysplasia, spastic paraplegia, mental retardation and blindness: A case report with CT scan findings and review of literature. Int J Pediatr Otorhinolaryngol 54:51-57.
-
(2000)
Int J Pediatr Otorhinolaryngol
, vol.54
, pp. 51-57
-
-
Dubey, S.P.1
Garap, J.P.2
-
14
-
-
0038876058
-
Tibial deficiency, hallucal Polydactyly, and uplifted slit-like nares in frontonasal dysplasia: A specific clinical phenotype with significant genetic implications
-
Birmingham, June 13-16
-
Eilers BLC, Falace PB, Bowles BE, Hall BD. 1982. Tibial deficiency, hallucal Polydactyly, and uplifted slit-like nares in frontonasal dysplasia: A specific clinical phenotype with significant genetic implications. March of Dimes Birth Defects Conference, Birmingham, June 13-16.
-
(1982)
March of Dimes Birth Defects Conference
-
-
Eilers, B.L.C.1
Falace, P.B.2
Bowles, B.E.3
Hall, B.D.4
-
15
-
-
0029903740
-
Possibly new multiple congenital anomaly syndrome: Cranio-fronto-nasal dysplasia with Poland anomaly
-
Erdogan B, Akoz T, Gorgu M, Kutlay R, Dag Fl. 1996. Possibly new multiple congenital anomaly syndrome: Cranio-fronto-nasal dysplasia with Poland anomaly. Am J Med Genet 65:222-225.
-
(1996)
Am J Med Genet
, vol.65
, pp. 222-225
-
-
Erdogan, B.1
Akoz, T.2
Gorgu, M.3
Kutlay, R.4
Dag, F.5
-
16
-
-
0014531282
-
Goldenhar syndrom und Kiefermissbildungen
-
Fleischer-Peters A. 1969. Goldenhar syndrom und Kiefermissbildungen. Dtsch Zahnarztl Z 24:545-551.
-
(1969)
Dtsch Zahnarztl Z
, vol.24
, pp. 545-551
-
-
Fleischer-Peters, A.1
-
17
-
-
0020954093
-
La dysplasie frontonasale (a propos de quatre observations)
-
Fontaine G, Walbaum R, Poupard B. 1983. La dysplasie frontonasale (a propos de quatre observations). J Génét Hum 32:351-356.
-
(1983)
J Génét Hum
, vol.32
, pp. 351-356
-
-
Fontaine, G.1
Walbaum, R.2
Poupard, B.3
-
18
-
-
0017187350
-
Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction
-
Fox JW, Golden GT, Edgerton MT. 1976. Frontonasal dysplasia with alar clefts in two sisters. Genetic considerations and surgical correction. Plast Reconstr Surg 57:553-561.
-
(1976)
Plast Reconstr Surg
, vol.57
, pp. 553-561
-
-
Fox, J.W.1
Golden, G.T.2
Edgerton, M.T.3
-
19
-
-
0030042814
-
Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome)
-
Frattarelli JL, Boley TJ, Miller RA. 1996. Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome). J Ultrasound Med 15:81-83.
-
(1996)
J Ultrasound Med
, vol.15
, pp. 81-83
-
-
Frattarelli, J.L.1
Boley, T.J.2
Miller, R.A.3
-
20
-
-
0027182358
-
Frontonasal dysplasia in two successive generations
-
Fryburg JS, Persing JA, Lin KY. 1993. Frontonasal dysplasia in two successive generations. Am J Med Genet 46:712-714.
-
(1993)
Am J Med Genet
, vol.46
, pp. 712-714
-
-
Fryburg, J.S.1
Persing, J.A.2
Lin, K.Y.3
-
21
-
-
0027217105
-
Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)
-
Fryns JP, Kleczkowska A, van den Berghe H. 1993. Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13). Clin Genet 44:46-47.
-
(1993)
Clin Genet
, vol.44
, pp. 46-47
-
-
Fryns, J.P.1
Kleczkowska, A.2
van den Berghe, H.3
-
24
-
-
0000535856
-
A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: The oculoauriculofrontonasal syndrome. Two new cases in sibs
-
Golabi M, Gonzales MC, Edwards MS. 1983. A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: The oculoauriculofrontonasal syndrome. Two new cases in sibs. Birth Defects 19:183-184.
-
(1983)
Birth Defects
, vol.19
, pp. 183-184
-
-
Golabi, M.1
Gonzales, M.C.2
Edwards, M.S.3
-
25
-
-
0031003190
-
Nasal dimple as part of the 22q11.2 deletion syndrome
-
Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. 1997. Nasal dimple as part of the 22q11.2 deletion syndrome. Am J Med Genet 69:290-292.
-
(1997)
Am J Med Genet
, vol.69
, pp. 290-292
-
-
Gripp, K.W.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Reed, L.A.4
Emanuel, B.S.5
Zackai, E.H.6
-
27
-
-
0031722883
-
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation
-
Guerrini R, Dobyns WB. 1998. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology 51:499-503.
-
(1998)
Neurology
, vol.51
, pp. 499-503
-
-
Guerrini, R.1
Dobyns, W.B.2
-
28
-
-
0142075855
-
Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: Report on a male patient
-
Guion-Almeida ML, da Silva Lopes VL. 2003. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: Report on a male patient. Clin Dysmorphol 12:233-236.
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 233-236
-
-
Guion-Almeida, M.L.1
da Silva Lopes, V.L.2
-
29
-
-
0030785771
-
Oculoauriculofrontonasal spectrum in an adult Brazilian male
-
Guion-Almeida ML, Lopes VL. 1997. Oculoauriculofrontonasal spectrum in an adult Brazilian male. Clin Dysmorphol 6:251-255.
-
(1997)
Clin Dysmorphol
, vol.6
, pp. 251-255
-
-
Guion-Almeida, M.L.1
Lopes, V.L.2
-
30
-
-
0026643933
-
Acrocallosal syndrome: Report of a Brazilian girl
-
Guion-Almeida ML, Richieri-Costa A. 1992. Acrocallosal syndrome: Report of a Brazilian girl. Am J Med Genet 43:938-941.
-
(1992)
Am J Med Genet
, vol.43
, pp. 938-941
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
31
-
-
0033008615
-
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
-
Guion-Almeida ML, Richieri-Costa A. 1999. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol 8:1-4.
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 1-4
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
32
-
-
0035079674
-
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: Defining the phenotype
-
Guion-Almeida ML, Richieri-Costa A. 2001. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: Defining the phenotype. Clin Dysmorphol 10:81-86.
-
(2001)
Clin Dysmorphol
, vol.10
, pp. 81-86
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
34
-
-
37249087184
-
Pai syndrome: Report of seven South American patients. Am J Med Genet Part A
-
in press
-
Guion-Almeida ML, Mellado C, Beltran C, Richiero-Costa A. 2007. Pai syndrome: Report of seven South American patients. Am J Med Genet Part A (in press).
-
(2007)
-
-
Guion-Almeida, M.L.1
Mellado, C.2
Beltran, C.3
Richiero-Costa, A.4
-
36
-
-
3342986374
-
Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance
-
Hing AV, Syed N, Cunningham ML. 2004. Familial acromelic frontonasal dysostosis: Autosomal dominant inheritance with reduced penetrance. Am J Med Genet Part A 128A:374-382.
-
(2004)
Am J Med Genet
, vol.128 A
, Issue.PART A
, pp. 374-382
-
-
Hing, A.V.1
Syed, N.2
Cunningham, M.L.3
-
37
-
-
0032749014
-
The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis
-
Hu D, Helms JA. 1999. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 126:4873-4884.
-
(1999)
Development
, vol.126
, pp. 4873-4884
-
-
Hu, D.1
Helms, J.A.2
-
39
-
-
0034923680
-
Hair follicle nevus occurring in frontonasal dysplasia: An electron microscopic observation
-
Kuwahara H, Lao LM, Kiyohara T, Kumakiri M, Igawa H. 2001. Hair follicle nevus occurring in frontonasal dysplasia: An electron microscopic observation. J Dermatol 28:324-328.
-
(2001)
J Dermatol
, vol.28
, pp. 324-328
-
-
Kuwahara, H.1
Lao, L.M.2
Kiyohara, T.3
Kumakiri, M.4
Igawa, H.5
-
40
-
-
0020511874
-
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial Polydactyly and split nails: A new autosomal dominant mettant with reduced penetrance and variable expression?
-
Kwee ML, Lindhout D. 1983. Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial Polydactyly and split nails: A new autosomal dominant mettant with reduced penetrance and variable expression? Clin Genet 24:200-205.
-
(1983)
Clin Genet
, vol.24
, pp. 200-205
-
-
Kwee, M.L.1
Lindhout, D.2
-
41
-
-
15444339542
-
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: A report of six cases
-
Lees MM, Hodgkins P, Reardon W, Taylor D, Stanhope R, Jones B, Hayward R, Hockley AD, Baraitser M, Winter RM. 1998. Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: A report of six cases. Clin Dysmorphol 7:157-162.
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 157-162
-
-
Lees, M.M.1
Hodgkins, P.2
Reardon, W.3
Taylor, D.4
Stanhope, R.5
Jones, B.6
Hayward, R.7
Hockley, A.D.8
Baraitser, M.9
Winter, R.M.10
-
42
-
-
0029665981
-
Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity
-
Leiten RJ, Winter RM. 1996. Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. Acta Ophthalmol Scand Suppl 219:16-19.
-
(1996)
Acta Ophthalmol Scand
, Issue.SUPPL. 219
, pp. 16-19
-
-
Leiten, R.J.1
Winter, R.M.2
-
43
-
-
0028088752
-
Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants
-
Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A, Gorry P, Gansmuller A, Chambon P. 1994. Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants. Development 120:2723-2748.
-
(1994)
Development
, vol.120
, pp. 2723-2748
-
-
Lohnes, D.1
Mark, M.2
Mendelsohn, C.3
Dolle, P.4
Dierich, A.5
Gorry, P.6
Gansmuller, A.7
Chambon, P.8
-
45
-
-
2442690674
-
Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs
-
Lopes VL, Guion-Almeida ML, Giffoni SD. 2004. Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs. Clin Dysmorphol 13:35-37.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 35-37
-
-
Lopes, V.L.1
Guion-Almeida, M.L.2
Giffoni, S.D.3
-
47
-
-
0030729314
-
Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;l6)(q28;q11.2)
-
Masuno M, Imaizumi K, Fukushima Y, Tanaka Y, Ishii T, Nakamura M, Kuroki Y. 1997. Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;l6)(q28;q11.2). J Med Genet 34:952-954.
-
(1997)
J Med Genet
, vol.34
, pp. 952-954
-
-
Masuno, M.1
Imaizumi, K.2
Fukushima, Y.3
Tanaka, Y.4
Ishii, T.5
Nakamura, M.6
Kuroki, Y.7
-
48
-
-
0033957470
-
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: Another observation
-
Masuno M, Imaizumi K, Aida N, Nishimura G, Kimura J, Kuroki Y. 2000. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: Another observation. Clin Dysmorphol 9:59-60.
-
(2000)
Clin Dysmorphol
, vol.9
, pp. 59-60
-
-
Masuno, M.1
Imaizumi, K.2
Aida, N.3
Nishimura, G.4
Kimura, J.5
Kuroki, Y.6
-
49
-
-
0141960045
-
Frontonasal dysplasia in 3H1 Br/Br mice. Anat Rec A Discov Mol Cell
-
McBratney BM, Margaryan E, Ma W, Urban Z, Lozanoff S. 2003. Frontonasal dysplasia in 3H1 Br/Br mice. Anat Rec A Discov Mol Cell Evol Biol 271:291-302.
-
(2003)
Evol Biol
, vol.271
, pp. 291-302
-
-
McBratney, B.M.1
Margaryan, E.2
Ma, W.3
Urban, Z.4
Lozanoff, S.5
-
50
-
-
0027284051
-
Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot
-
Meguid NA. 1993. Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot. Clin Genet 44:95-97.
-
(1993)
Clin Genet
, vol.44
, pp. 95-97
-
-
Meguid, N.A.1
-
51
-
-
0024312282
-
Frontonasal dysplasia, congenital heart defect, and short stature: A further observation
-
Meinecke P, Blunck W. 1989. Frontonasal dysplasia, congenital heart defect, and short stature: A further observation. J Med Genet 26:408-409.
-
(1989)
J Med Genet
, vol.26
, pp. 408-409
-
-
Meinecke, P.1
Blunck, W.2
-
52
-
-
0032947248
-
A case of Pai syndrome
-
Mishima K, Mori Y, Minami K, Sakuda M, Sugahara T. 1999. A case of Pai syndrome. Plast Reconstr Surg 103:166-170.
-
(1999)
Plast Reconstr Surg
, vol.103
, pp. 166-170
-
-
Mishima, K.1
Mori, Y.2
Minami, K.3
Sakuda, M.4
Sugahara, T.5
-
53
-
-
7444260682
-
Monozygotic twins discordant for frontonasal malformation
-
Mohammed SN, Swan MC, Wall SA, Wilkie AO. 2004. Monozygotic twins discordant for frontonasal malformation. Am J Med Genet Part A 130A:384-388.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.PART A
, pp. 384-388
-
-
Mohammed, S.N.1
Swan, M.C.2
Wall, S.A.3
Wilkie, A.O.4
-
54
-
-
0022939118
-
A patient with median cleft face anomaly and bilateral Goldenhar anomaly
-
Musarella MA, Young ID. 1986. A patient with median cleft face anomaly and bilateral Goldenhar anomaly. Am J Med Genet 2:135-141.
-
(1986)
Am J Med Genet
, vol.2
, pp. 135-141
-
-
Musarella, M.A.1
Young, I.D.2
-
55
-
-
0033607473
-
Frontonasal dysostosis in two successive generations
-
Nevin NC, Leonard AG, Jones B. 1999. Frontonasal dysostosis in two successive generations. Am J Med Genet 87:251-253.
-
(1999)
Am J Med Genet
, vol.87
, pp. 251-253
-
-
Nevin, N.C.1
Leonard, A.G.2
Jones, B.3
-
56
-
-
0023213378
-
Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps
-
Pai GS, Levkoff AH, Leithiser RE Jr. 1987. Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. Am J Med Genet 26:921-924.
-
(1987)
Am J Med Genet
, vol.26
, pp. 921-924
-
-
Pai, G.S.1
Levkoff, A.H.2
Leithiser Jr., R.E.3
-
57
-
-
33745685474
-
Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations
-
Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. 2006. Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin A mutations. Brain 129:1892-1906.
-
(2006)
Brain
, vol.129
, pp. 1892-1906
-
-
Parrini, E.1
Ramazzotti, A.2
Dobyns, W.B.3
Mei, D.4
Moro, F.5
Veggiotti, P.6
Marini, C.7
Brilstra, E.H.8
Dalla Bernardina, B.9
Goodwin, L.10
Bodell, A.11
Jones, M.C.12
Nangeroni, M.13
Palmeri, S.14
Said, E.15
Sander, J.W.16
Striano, P.17
Takahashi, Y.18
Van Maldergem, L.19
Leonardi, G.20
Wright, M.21
Walsh, C.A.22
Guerrini, R.23
more..
-
58
-
-
0025081891
-
Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?
-
Reardon W, Temple IK, Jones B, Baraitser M. 1990. Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? Clin Genet 38:233-236.
-
(1990)
Clin Genet
, vol.38
, pp. 233-236
-
-
Reardon, W.1
Temple, I.K.2
Jones, B.3
Baraitser, M.4
-
59
-
-
33750578752
-
The Syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies-Phenotypic and aetiological considerations
-
Richieri-Costa A, Guion-Almeida ML. 2004. The Syndrome of frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies-Phenotypic and aetiological considerations. Int J Med Sci 1:34-42.
-
(2004)
Int J Med Sci
, vol.1
, pp. 34-42
-
-
Richieri-Costa, A.1
Guion-Almeida, M.L.2
-
60
-
-
0028238069
-
A further patient with Pai syndrome with autosomal dominant inheritance?
-
Rudnik-Schoneborn S, Zerres K. 1994. A further patient with Pai syndrome with autosomal dominant inheritance? J Med Genet 31:497-498.
-
(1994)
J Med Genet
, vol.31
, pp. 497-498
-
-
Rudnik-Schoneborn, S.1
Zerres, K.2
-
62
-
-
0023898135
-
Frontonasal malformation as a field defect and in syndromic associations
-
Sedano HO, Gorlin RJ. 1988. Frontonasal malformation as a field defect and in syndromic associations. Oral Surg Oral Med Oral Pathol 65:704-710.
-
(1988)
Oral Surg Oral Med Oral Pathol
, vol.65
, pp. 704-710
-
-
Sedano, H.O.1
Gorlin, R.J.2
-
64
-
-
0033548576
-
Acromelic frontonasal dysostosis
-
Slaney SF, Goodman FR, Eilers-Walsman BL, Hall BD, Williams DK, Young ID, Hayward RD, Jones BM, Christianson AL, Winter RM. 1999. Acromelic frontonasal dysostosis. Am J Med Genet 83:109-116.
-
(1999)
Am J Med Genet
, vol.83
, pp. 109-116
-
-
Slaney, S.F.1
Goodman, F.R.2
Eilers-Walsman, B.L.3
Hall, B.D.4
Williams, D.K.5
Young, I.D.6
Hayward, R.D.7
Jones, B.M.8
Christianson, A.L.9
Winter, R.M.10
-
65
-
-
0028961693
-
Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11
-
Stevens CA, Qumsiyeh MB. 1995. Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11. Am J Med Genet 55:494-497.
-
(1995)
Am J Med Genet
, vol.55
, pp. 494-497
-
-
Stevens, C.A.1
Qumsiyeh, M.B.2
-
66
-
-
0031004202
-
Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11
-
Stratton RF, Payne RM. 1997. Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11. Am J Med Genet 69:287-289.
-
(1997)
Am J Med Genet
, vol.69
, pp. 287-289
-
-
Stratton, R.F.1
Payne, R.M.2
-
67
-
-
0027253535
-
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial Polydactyly of feet: Severe expression of the acrocallosal syndrome?
-
Sueldo G, Fernandes MC. 1993. Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial Polydactyly of feet: Severe expression of the acrocallosal syndrome? Am J Med Genet 46:355-357.
-
(1993)
Am J Med Genet
, vol.46
, pp. 355-357
-
-
Sueldo, G.1
Fernandes, M.C.2
-
68
-
-
23244439562
-
Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): A case report and literature review
-
Szeto C, Tewfik TL, Jewer D, Rideout A. 2005. Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): A case report and literature review. Int J Pediatr Otorhinolaryngol 69:1247-1252.
-
(2005)
Int J Pediatr Otorhinolaryngol
, vol.69
, pp. 1247-1252
-
-
Szeto, C.1
Tewfik, T.L.2
Jewer, D.3
Rideout, A.4
-
69
-
-
0025090992
-
Midline facial defects with ocular colobomata
-
Temple IK, Brunner H, Jones B, Burn J, Baraitser M. 1990. Midline facial defects with ocular colobomata. Am J Med Genet 37:23-27.
-
(1990)
Am J Med Genet
, vol.37
, pp. 23-27
-
-
Temple, I.K.1
Brunner, H.2
Jones, B.3
Burn, J.4
Baraitser, M.5
-
70
-
-
0022946296
-
Frontonasal "dysplasia," cerebral anomalies, and Polydactyly: Report of a new syndrome and discussion from a developmental field perspective
-
Toriello HV, Radecki LL, Sharda J, Looyenga D, Mann R. 1986. Frontonasal "dysplasia," cerebral anomalies, and Polydactyly: Report of a new syndrome and discussion from a developmental field perspective. Am J Med Genet 2:89-96.
-
(1986)
Am J Med Genet
, vol.2
, pp. 89-96
-
-
Toriello, H.V.1
Radecki, L.L.2
Sharda, J.3
Looyenga, D.4
Mann, R.5
-
71
-
-
0028862463
-
Oculoauriculofrontonasal syndrome: Report of another case and review of differential diagnosis
-
Toriello HV, Higgins JV, Mann R. 1995. Oculoauriculofrontonasal syndrome: Report of another case and review of differential diagnosis. Clin Dysmorphol 4:338-346.
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 338-346
-
-
Toriello, H.V.1
Higgins, J.V.2
Mann, R.3
-
72
-
-
2942560339
-
Mutations of ephrin-B1 (EFNBl), a marker of tissue boundary formation, cause craniofrontonasal syndrome
-
Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO. 2004. Mutations of ephrin-B1 (EFNBl), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA 101:8652-8657.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 8652-8657
-
-
Twigg, S.R.1
Kan, R.2
Babbs, C.3
Bochukova, E.G.4
Robertson, S.P.5
Wall, S.A.6
Morriss-Kay, G.M.7
Wilkie, A.O.8
-
73
-
-
0026598703
-
Acromelic frontonasal "dysplasia": Further delineation of a subtype with brain malformation and Polydactyly (Toriello syndrome)
-
Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. 1992. Acromelic frontonasal "dysplasia": Further delineation of a subtype with brain malformation and Polydactyly (Toriello syndrome). Am J Med Genet 42:180-183.
-
(1992)
Am J Med Genet
, vol.42
, pp. 180-183
-
-
Verloes, A.1
Gillerot, Y.2
Walczak, E.3
Van Maldergem, L.4
Koulischer, L.5
-
74
-
-
0015720823
-
Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling
-
Warkany J, Bofinger MK, Benton C. 1973. Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling. Teratology 8:273-285.
-
(1973)
Teratology
, vol.8
, pp. 273-285
-
-
Warkany, J.1
Bofinger, M.K.2
Benton, C.3
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