A family with the Saethre-Chotzen syndromeBIANCHI, E; ARICO, M; PODESTA, A. F et al.American journal of medical genetics. 1985, Vol 22, Num 4, pp 649-658, issn 0148-7299Article

Syndrome de Saethre-Chotzen: observation d'un cas familial à pénétrance progressive = Saethre-Chotzen syndrome: report of one caseLEOU, E; NEGRESCO, D; TZILICA, D et al.Médecine et hygiène. 1989, Vol 47, Num 1813, pp 3113-3118, issn 0025-6749, 6 p.Article

Chotzen-Saethre-Syndrom mit Oligophrenie und psychischer Fehlenwicklung = Saethre-Chotzen syndrome with oligophrenia and psychic maldevelopmentFEHLOW, P; WALTHER, F.Psychiatrie, Neurologie und medizinische Psychologie. 1990, Vol 42, Num 6, pp 364-368, issn 0033-2739, 5 p.Article

Congenital tracheal stenosis in Pfeiffer syndromeSTONE, P; TREVENEN, L; MITCHELL, I et al.Clinical genetics. 1990, Vol 38, Num 2, pp 145-148, issn 0009-9163Article

Neuropsychiatrische Begleitsymptome bei Saethre-Chotzen-Syndrom = Saethre-Chotzen syndrome (SCS) and associated neurological and psychiatric symptomsFEHLOW, P; FRÖHLICH, B; MIOSGE, W et al.Fortschritte der Neurologie, Psychiatrie. 1992, Vol 60, Num 2, pp 66-73, issn 0720-4299Article

Syndrome de Saethre-Chotzen et syndrome de Holt-Oram : implication de deux nouveaux gènes de développement, TWIST en TBX5 = Two new human development gens, TWIST and TBX5 involved in Saethre-Chotzen and in Holt-Gram syndromes, respectivelyGILGENKRANTZ, S.MS. Médecine sciences. 1997, Vol 13, Num 4, pp 576-580, issn 0767-0974Article

Acrocephalosyndactyly of Apert-Pfeiffer type and polydactylyLINDEMANN, C; MEINECKE, P; WOLFF, G et al.Dysmorphology and clinical genetics. 1992, Vol 6, Num 4, pp 184-190, issn 0893-6633Article

Acrocephalopolysyndactyly type II―Carpenter syndrome: clinical spectrum and an attempt at unification with goodman and summit syndromesCOHEN, D. M; GREEN, J. G; MILLER, J et al.American journal of medical genetics. 1987, Vol 28, Num 2, pp 311-324, issn 0148-7299Article

Rubrique iconographique dirigée par C. Fauré et J. Ph. Montagne: syndrome de Pfeiffer = Pfeiffer syndrome: radiological case reportLANTERI, M; BONIOLI, E; RUFFA, G et al.Archives françaises de pédiatrie. 1985, Vol 42, Num 8, pp 717-718, issn 0003-9764Article

Audiologic Findings in Saethre-Chotzen SyndromeROSEN, Heather; ANDREWS, Brian T; MEARA, John G et al.Plastic and reconstructive surgery (1963). 2011, Vol 127, Num 5, pp 2014-2020, issn 0032-1052, 7 p.Article

The hands in Pfeiffer syndromeANDERSON, P. J; HALL, C. M; SMITH, P. J et al.Journal of hand surgery. British and european volume. 1997, Vol 22, Num 4, pp 537-540Article

A new case of Pfeiffer syndrome with mutation in FGFR2ADDOR, M.-C; GUDINCHET, F; LAURINI, R. N et al.Genetic counseling. 1997, Vol 8, Num 4, pp 303-309, issn 1015-8146Conference Paper

Possible genetic heterogeneity in the Saethre-Chotzen syndromeMA, H. W; LAJEUNIE, E; DE PARSEVAL, N et al.Human genetics. 1996, Vol 98, Num 2, pp 228-232, issn 0340-6717Article

Waardenburg-Hirschsprung disease in two sisters : A possible clue to the genetics of this association ?BONNET, J. P; TILL, M; EDERY, P et al.European journal of pediatric surgery. 1996, Vol 6, Num 4, pp 245-248, issn 0939-7248Article

Type 3 Pfeiffer syndrome with normal thumbsKERR, N. C; WILROY, R. S; KAUFMAN, R. A et al.American journal of medical genetics. 1996, Vol 66, Num 2, pp 138-143, issn 0148-7299Article

Les cranio-facio-sténoses : syndrome d'Apert et syndrome de Crouzon = Cranio-synostosis : Apert's syndrome and Crouzon 's syndromeDENIS, D; BARDOT, J; GENITORI, L et al.Bulletin des sociétés d'ophtalmologie de France. 1995, Vol 95, Num 5, pp 310-314, issn 0081-1270Article

Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parentsRICHIERI-COSTA, A; PIROLO, L. JR; COHEN, M. M et al.American journal of medical genetics. 1993, Vol 47, Num 2, pp 281-283, issn 0148-7299Article

Pfeiffer syndrome : a syndrome of acrocephalosyndactylyKISSEL, C. G; GODDMAN, E. F; BOFFELI, T. J et al.The Journal of foot surgery. 1992, Vol 31, Num 2, pp 149-153, issn 0449-2544Article

The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen SyndromeFOO, Roy; YIFAN GUO; MCDONALD-MCGINN, Donna M et al.Plastic and reconstructive surgery (1963). 2009, Vol 124, Num 6, pp 2085-2095, issn 0032-1052, 11 p.Conference Paper

Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndromeOKTENLI, Cagatay; SAGLAM, Mutlu; ZAFER, Emre et al.Nephron. 2002, Vol 92, Num 2, pp 463-465, issn 0028-2766Article

Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndromeBENACERRAF, B. R; SPIRO, R; MITCHELL, A. G et al.Ultrasound in obstetrics & gynecology. 2000, Vol 16, Num 4, pp 391-394, issn 0960-7692Article

Pfeiffer type cardiocranial syndrome : a third case reportWILLIAMSON-KRUSE, L; BIESECKER, L. G.Journal of medical genetics. 1995, Vol 32, Num 11, pp 901-903, issn 0022-2593Article

Cerebral malformations in Carpenter syndromeSASIDHARAN TARAVATH; TONSGARD, J. H.Pediatric neurology. 1993, Vol 9, Num 3, pp 230-234, issn 0887-8994Article

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2REARDON, W; MCMANUS, S. P; SUMMERS, D et al.American journal of medical genetics. 1993, Vol 47, Num 5, pp 633-636, issn 0148-7299Article

Page / 3