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Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63ZENTENO, Juan Carlos; BERDON-ZAPATA, Valeria; KOFMAN-ALFARO, Susana et al.American journal of medical genetics. 2005, Vol 134A, Num 1, pp 74-76, issn 0148-7299, 3 p.Article

Syndrome FATCO―aplasie fibulaire, campomélie tibiale et oligosyndactylieVYSKOCIL, Vaclav; DORTOVA JIRI DORT, Eva; CHUDACEK, Zdenek et al.Revue du rhumatisme (Ed. française). 2011, Vol 78, Num 1, pp 96-97, issn 1169-8330, 2 p.Article

ISOLATED ECTRODACTYLY IN A NEWBORN WITH DOWN SYNDROMEKAVURT, S; CELIK, I. H; ADA, B. S et al.Genetic counseling. 2014, Vol 25, Num 2, pp 209-214, issn 1015-8146, 6 p.Article

Fibular aplasia with ectrodactyly : broadening the clinical spectrumGIERUSZCZAK-BIALEK, D; OLDAK, M; SKORKA, A et al.European journal of medical genetics. 2006, Vol 49, Num 1, pp 83-86, issn 1769-7212, 4 p.Article

Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literatureJOHNSON, Steven E; TATUM, Sherard A; THOMSON, Laura L et al.International journal of pediatric otorhinolaryngology. 2002, Vol 66, Num 3, pp 309-313, issn 0165-5876, 5 p.Article

Prenatally Diagnosed Ectrodactyly at 16 Weeks' Gestation by 2-and 3-Dimensional Ultrasonography : A Case ReportBON SANG KOO; SU JIN BAEK; MI RYUNG KIM et al.Fetal diagnosis and therapy. 2008, Vol 24, Num 3, pp 161-164, issn 1015-3837, 4 p.Article

EEC syndrome sans clefting : Variable clinical presentations in a familyTHAKKAR, Sejal; MARFATIA, Yogesh.Indian Journal of Dermatology Venereology and Leprology. 2007, Vol 73, Num 1, pp 46-48, issn 0378-6323, 3 p.Article

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformationEVERMAN, David B; MORGAN, Chad T; SCHRANDER-STUMPEL, Connie et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1375-1383, issn 1552-4825, 9 p.Article

DOMINANT ECTRODACTYLY AND POSSIBLE GERMINAL MOSAICISM = ECTRODACTYLIE DOMINANTE ET MOSAIQUE GERMINALE POSSIBLEDAVID TJ.1972; J. MED. GENET.; G.B.; DA. 1972; VOL. 9; NO 3; PP. 316-320; BIBL. 28REF.Serial Issue

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the regionLYLE, Robert; RADHAKRISHNA, Uppala; GURRIERI, Fiorella et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1384-1395, issn 1552-4825, 12 p.Article

Microduplication of Xq24 and Hartsfield Syndrome With Holoprosencephaly, Ectrodactyly, and CleftingTAKENOUCHI, Toshiki; OKUNO, Hironobu; KOSAKI, Kenjiro et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2537-2541, issn 1552-4825, 5 p.Article

Bifurcation of the femur with tibial agenesis and additional anomaliesVAN DE KAMP, J. M; VAN DER SMAGT, J. J; BOS, C. F. A et al.American journal of medical genetics. 2005, Vol 138A, Num 1, pp 45-50, issn 0148-7299, 6 p.Article

Familial ectrodactyly―ectodermal dysplasia―clefting syndromeGÜN, Ismet; KIZILASLAN, Cem; ARAL ATALAY, Mehmet et al.International journal of gynaecology and obstetrics. 2012, Vol 119, Num 1, pp 86-87, issn 0020-7292, 2 p.Article

Holoprosencephaly and Ectrodactyly: Report of Three New Patients and Review of the LiteratureKEATON, Amelia A; SOLOMON, Benjamin D; VAN ESSEN, Anthonie J et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 170-175, issn 1552-4868, 6 p.Article

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q 14.1-q 14.2DAVID, Dezsö; MARQUES, Barbara; FERREIRA, Cristina et al.European journal of human genetics. 2009, Vol 17, Num 8, pp 1024-1033, issn 1018-4813, 10 p.Article

Comparative molecular pathology of cadmium-and all-trans-retinoic acid-induced postaxial forelimb ectrodactylyXIAOYAN LIAO; LEE, Grace S; SHIMIZU, Hirohito et al.Toxicology and applied pharmacology. 2007, Vol 225, Num 1, pp 47-60, issn 0041-008X, 14 p.Conference Paper

Three New Patients With FATCO: Fibular Agenesis With EctrodactylyBIEGANSKI, Tadeusz; JAMSHEER, Aleksander; SOWINSKA, Anna et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1542-1550, issn 1552-4825, 9 p.Article

Somatic/Gonadal Mosaicism in a Syndromic Form of Ectrodactyly, Including Eye Abnormalities, Documented Through Array-Based Comparative Genomic HybridizationBONALUMI, Aguinaldo; SOUZA, Josiane; RASKIN, Salmo et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 1152-1156, issn 1552-4825, 5 p.Article

Clinical and epidemiological findings in patients with central ray deficiency : Split hand foot malformation (SHFM) in Manitoba, CanadaELLIOTT, Alison M; REED, Martin H; CHUDLEY, Albert E et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1428-1439, issn 1552-4825, 12 p.Article

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred arab family with an apparent autosomal dominant inheritance and reduced penetrance : Clinical and genetic analysisNAVEED, Mohammed; AL-ALI, Mahmoud T; MURTHY, Sabita K et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1440-1446, issn 1552-4825, 7 p.Article

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variabilityMINGARELLI, Rita; ZUCCARELLO, Daniela; DIGILIO, Maria Cristina et al.American journal of medical genetics. 2005, Vol 136A, Num 1, pp 84-86, issn 0148-7299, 3 p.Article

Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defectsCORONA-RIVERA, J. Roman; CORONA-RIVERA, Enrique; FRAGOSO-HERRERA, Rubén et al.American journal of medical genetics. 2004, Vol 125A, Num 2, pp 205-209, issn 0148-7299, 5 p.Article

Interstitial deletion 6q16.2q22.2 in a child with ectrodactylyCORREA-CERRO, L; GARCIA-CRUZ, D; DIAZ-CASTANOS, L et al.Annales de génétique (Paris). 1996, Vol 39, Num 2, pp 105-109, issn 0003-3995Article

Triphalangeal thumb and brachyectrodactyly syndrome: conformation of autosomal dominant inheritanceCIRILLO SILENGO, M; BIAGIOLI, M; LOPEZ BELL, G et al.Clinical genetics. 1987, Vol 31, Num 1, pp 13-18, issn 0009-9163Article

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING (EEC) SYNDROME = SYNDROME ECTRODACTYLIE, DYSPLASIE ECTODERMIQUE, BEC-DE-LIEVREFRIED K.1972; CLIN. GENET.; DANM.; DA. 1972; VOL. 3; NO 5; PP. 396-400; BIBL. 5REF.Serial Issue

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