SCOPUS 정보 검색 플랫폼

Volumn 109, Issue 3, 2002, Pages 218-225

Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

(9) Dollfus, Hlne a,d Biswas, Partha a Kumaramanickavel, Govindsamy b Stoetzel, Corinne b Quillet, Renaud c Biswas, Jyotirmay b Lajeunie, Elisabeth c Renier, Dominique c Perrin Schmitt, Fabienne d

a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE (France)

b Anandalok Hospitals (India)

c MEDICAL RESEARCH FOUNDATION (India)

d Service de Neurochirugie (France)

Author keywords

Blepharophimosis; Craniostenosis; Expressivity; Haploinsufficiency; Oxycephaly; Penetrance; phenotype variability; Prominence of crus helicis; Ptosis; Saethre Chotzen syndrome; TWIST

Indexed keywords

ACROCEPHALOSYNDACTYLY; ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; CHILD; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; EAR MALFORMATION; EYELID; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; LIMB MALFORMATION; MALE; MOUSE; NONHUMAN; NONSENSE MUTATION; PENETRANCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PTOSIS;

ACROCEPHALOSYNDACTYLIA; AMINO ACID SUBSTITUTION; ANIMALS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MICE; MICE, INBRED STRAINS; MICE, MUTANT STRAINS; MICE, TRANSGENIC; MUTATION; NUCLEAR PROTEINS; PEDIGREE; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR; VARIATION (GENETICS);

EID: 0036569364 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10349 Document Type: Article

Times cited : (18)

References (18)

1
- 0031832127
- The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
- (1998) Hum Mol Gen , vol.7 , pp. 945-957
- Bourgeois, P.¹ Bocalto-Bellemin, A.L.² Danse, J.M.³ Bloch-Zupan, A.⁴ Yoshiba, K.⁵ Stoetzel, C.⁶ Perrin-Schmitt, F.⁷

2
- 0031984609
- Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities
- (1998) Am J Med Genet , vol.75 , pp. 52-54
- Cunniff, C.¹ Curtis, M.² Hassed, S.J.³ Hoyme, H.E.⁴

3
- 85056014632
- Locus homogeneity of the familial blepharophimosis-ptosis-epicanthus syndrome (BPES) at the 3q22 locus and identification of a new TWIST mutation (7p21) with variable eyelid manifestations
- (2001) J Med Genet , vol.38 , pp. 470-472
- Dollfus, H.¹ Kumaramanickavel, G.² Biswas, P.³ Stoetzel, C.⁴ Quillet, R.⁵ Denton, M.⁶ Maw, M.⁷ Perrin-Schmitt, F.⁸

4
- 0031012353
- Mutations of the TWIST gene in the Saethre-Chotzen syndrome
- (1997) Nature Genet , vol.15 , pp. 42-46
- El Ghouzzi, V.¹ Le Merrer, M.² Perrin-Schmitt, F.³ Lajeunie, E.⁴ Benit, P.⁵ Renier, D.⁶ Bourgeois, P.⁷ Bolcato-Bellemin, A.-L.⁸ Munnich, A.⁹ Bonaventure, J.¹⁰

5
- 0032953019
- Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to the Saethre-Chotzen syndrome
- (1999) Eur J Hum Genet , vol.7 , pp. 27-33
- El Ghouzzi, V.¹ Lajeunie, E.² Le Merrer, M.³ Cormier-Daire, V.⁴ Renier, D.⁵ Munnich, A.⁶ Bonaventure, J.⁷

6
- 0032173484
- Absence of multiple extraocular muscles in craniosynostosis
- (1998) J AAPOS , vol.5 , pp. 307-309
- Greenberg, M.F.¹ Pollard, Z.F.²

7
- 0033950556
- Mutations in the human TWIST gene
- (2000) Hum Mutation , vol.15 , pp. 150-155
- Gripp, K.W.¹ Zackai, E.H.² Stolle, C.A.³

8
- 0031021336
- Mutations in TWIST, a basic helix-loop-helix transcription factor, in SaethreChotzen syndrome
- (1997) Nature Genet , vol.15 , pp. 36-41
- Howard, T.D.¹ Paznekas, W.A.² Green, E.D.³ Chiang, L.C.⁴ Ma, N.⁵ Ortiz De Luna, R.I.⁶ Delgado, C.G.⁷ Gonzalez-Ramos, M.⁸ Kline, A.D.⁹ Jabs, E.W.¹⁰

9
- 0032231374
- A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1
- (1998) Am J Hum Genet , vol.63 , pp. 1282-1293
- Johnson, D.¹ Horsley, S.W.² Moloney, D.M.³ Oldridge, M.⁴ Twigg, S.R.F.⁵ Walsh, S.⁶ Barrow, M.⁷ Njolstad, P.R.⁸ Kunz, J.⁹ Ashworth, G.J.¹⁰ Wall, S.A.¹¹ Kearney, L.¹² Wilkie, A.O.M.¹³

10
- 0025963261
- Pitfalls in counselling: The craniostenosis
- (1991) J Med Genet , vol.28 , pp. 117-121
- Marini, R.¹ Temple, K.² Chitty, L.³ Genet, S.⁴ Baraister, M.⁵

11
- 0029850981
- Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
- (1996) Hum Molec Genet , vol.5 , pp. 2049-2054
- Maw, M.¹ Kar, B.² Biswas, J.³ Biswas, P.⁴ Nancarrow, D.⁵ Denton, M.⁶ Bridges, R.⁷ Kumaramanickavel, G.⁸ Badrinath, S.S.⁹

12
- 0025939997
- Saethre-Chotzen syndrome in four generations
- (1991) Clin Genet , vol.40 , pp. 271-276
- Niemann-Seyde, S.C.¹ Eber, S.W.² Zoll, B.³

13
- 0016838555
- The Saethre-Chotzen syndrome
- (1975) Birth Defects Orig Art Ser , vol.11 , pp. 190-225
- Pantke, O.A.¹ Cohen, M.M.² Witkop, C.J.³ Feingold, M.⁴ Schaumann, B.⁵ Pantke, H.C.⁶ Gorlin, R.J.⁷

14
- 17344363396
- Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations
- (1999) Am J Hum Genet , vol.62 , pp. 1327-1380
- Paznekas, W.A.¹ Cunningham, M.L.² Howard, T.D.³ Korf, B.R.⁴ Lipson, M.H.⁵ Grix, A.W.⁶ Feingold, M.⁷ Goldberg, R.⁸ Borochowitz, Z.⁹ Aleck, K.¹⁰ Mulliken, J.¹¹ Yin, M.¹² Jabs, E.T.¹³

15
- 0028263955
- Saethre-Chotzen syndrome
- (1994) J Med Genet , vol.31 , pp. 393-396
- Reardon, W.¹ Winter, R.M.²

16
- 0034106166
- Integration of FGF and TWSIT in calvarian bone and suture development
- (2000) Development , vol.127 , pp. 1845-1855
- Rice, D.P.¹ Aberg, T.² Chan, Y.³ Kettunen, P.J.⁴ Pakarinene, L.⁵ Maxson, R.E.⁶ Thesleff, I.⁷

17
- 0032231422
- A new twist: Some patients with Saethre-Chotzen syndrome have a microdeletion syndrome
- (1998) Am J Hum Genet , vol.63 , pp. 1277-1281
- Zackai, E.H.¹ Stolle, C.A.²

18
- 0020508397
- The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
- (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
- Zlotogora, J.¹ Sagi, M.² Cohen, T.³

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