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Results 1 to 25 of 151

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The five-flap technique for blepharophimosisANDERSON, R. L; NOWINSKI, T. S.Archives of ophthalmology (1960). 1989, Vol 107, Num 3, pp 448-452, issn 0003-9950Article

Blefarofimosis hereditaria con alteraciones visuales = Blepharophimosis hereditary syndrome with visual alterationRUIZ-MANJARREZ, A; GUILLEN-ANORVE, B; NUNEZ-GOMEZ, R et al.Boletín Médico del Hospital Infantil de México (Ed. española). 1993, Vol 50, Num 8, pp 586-589, issn 0539-6115Article

Dominantly inherited syndromic blepharophimosisBIXLER, D.American journal of medical genetics. 1989, Vol 33, Num 4, issn 0148-7299, 551 [1 p.]Article

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)FAN, Jia-Yan; BING HAN; JIE QIAO et al.Mutagenesis. 2011, Vol 26, Num 2, pp 283-289, issn 0267-8357, 7 p.Article

Acquired blepharophimosis in a patient with juvenile blepharospasmPATRINELY, J. R; ANDERSON, R. L.Ophthalmic plastic and reconstructive surgery. 1986, Vol 2, Num 4, pp 205-208, issn 0740-9303Article

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)LEON-MATEOS, Alvaro; GINARTE, Manuel; RUIZ-PONTE, Clara et al.International journal of dermatology. 2007, Vol 46, Num 1, pp 61-63, issn 0011-9059, 3 p.Article

A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactylyPARMAR, Ramesh C; MURANJAN, Mamta N.American journal of medical genetics. 2004, Vol 124A, Num 2, pp 200-201, issn 0148-7299, 2 p.Article

Les malformations palpébrales héréditaires. Le blépharophimosis = Hereditary palpebral malformation. BlepharophimosisROUGIER, J.Journal de génétique humaine. 1986, Vol 34, Num 1, pp 3-17, issn 0021-7743Article

Über eine Familie mit Blepharophimose, Ptosis, Epikanthus inversus und Telekanthus : Auftreten der hereditâren Merkmals über fünf Generationen = Blepharophimosis, Ptosis, Epicanthus Inversus and telecanthus in a family over five generationsKUCKLEKORN, R; REIM, M.Klinische Monatsblätter für Augenheilkunde. 1992, Vol 201, Num 5, pp 325-329, issn 0023-2165Conference Paper

FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported recordsYAN XU; HUO LEI; HONG DONG et al.Mutagenesis. 2009, Vol 24, Num 5, pp 447-453, issn 0267-8357, 7 p.Article

Correction of blepharophimosis with silicone implant suspensorFRIEDHOFER, Henri; NIGRO, Marcelus V. A. S; FILHO, Aylton Cheroto et al.Plastic and reconstructive surgery (1963). 2006, Vol 117, Num 5, pp 1428-1434, issn 0032-1052, 7 p.Article

Mutation analysis of the FOXL2 gene in chinese patients with blepharophimosis-ptosis-epicanthus inversus syndromeSHENGJIAN TANG; XIAOKE WANG; LIXIN LIN et al.Mutagenesis. 2006, Vol 21, Num 1, pp 35-39, issn 0267-8357, 5 p.Article

Correction of telecanthus in the blepharophimosis syndromeNOWINSKI, T. S.International ophthalmology clinics. 1992, Vol 32, Num 3, pp 157-164, issn 0020-8167Article

Kahn's wire passer used in medial canthal tendon fixationMON-TE KAHN; CHI-WANG YAU; YAO-AN FU et al.Ophthalmic plastic and reconstructive surgery. 1991, Vol 7, Num 4, pp 298-301, issn 0740-9303Conference Paper

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)OLEY, C; BARAITSER, M.Journal of medical genetics. 1988, Vol 25, Num 1, pp 47-51, issn 0022-2593Article

One-stage repair of blepharophimosisNAKAJIMA, T; YOSHIMURA, Y; ONISHI, K et al.Plastic and reconstructive surgery (1963). 1991, Vol 87, Num 1, pp 24-31, issn 0032-1052, 8 p.Conference Paper

Le rôle des altérations de FOXL2 dans les insuffisances ovariennes prématurées syndromiques et non syndromiques = Role of FOXL2 impairment in syndromic and non-syndromic premature ovarian failure (POF)DE BAERE, E.Annales d'endocrinologie. 2010, Vol 71, Num 3, issn 0003-4266, p. 214Conference Paper

A newly recognized, likely autosomal récessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, sévère dermatitis, and other featuresCROW, Yanick Joseph; GOODSHIP, J. A; WRIGHT, C et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 11, pp 1131-1135, issn 1552-4825, 5 p.Article

Deletion of the TWIST gene in a large five-generation familyDE HEER, I. M; HOOGEBOOM, A. J. M; EUSSEN, H. J et al.Clinical genetics. 2004, Vol 65, Num 5, pp 396-399, issn 0009-9163, 4 p.Article

Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian familiesRAMIREZ-CASTRO, J. L; PINEDA-TRUJILLO, N; RUIZ-LINARES, A et al.American journal of medical genetics. 2002, Vol 113, Num 1, pp 47-51, issn 0148-7299, 5 p.Article

Blepharophimosis-ptosis-epicanthus inversus syndrome associated with interstitial deletion of chromosome 3q21-23NODA, K; MASHIMA, Y; NAKAMURA, Y et al.Journal of pediatric ophthalmology and strabismus. 1998, Vol 35, Num 4, pp 242-243, issn 0191-3913Article

Blepharophimosis : A causally heterogeneous malformation frequently associated with developmental disabilitiesCUNNIFF, C; CURTIS, M; HASSED, S. J et al.American journal of medical genetics. 1998, Vol 75, Num 1, pp 52-54, issn 0148-7299Article

Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and prehensile halluces : A new syndrome?DAY-SALVATORE, D; MCLEAN, D.American journal of medical genetics. 1998, Vol 80, Num 4, pp 309-313, issn 0148-7299Article

A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3qCAI, T; TAGLE, D. A; XIA, X et al.Journal of medical genetics. 1997, Vol 34, Num 9, pp 772-776, issn 0022-2593Article

Maden-Walker phenotype : A diagnostic dilemmaSOEKARMAN, D; VOLCKE, P; LEGIUS, E et al.Genetic counseling. 1996, Vol 7, Num 1, pp 31-39, issn 1015-8146Conference Paper

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