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Results 1 to 25 of 142

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Osteoscintigraphy and brachydactylia of the handLECKLITNER, M. L; DOUGLAS, K. P.European journal of nuclear medicine. 1986, Vol 12, Num 9, pp 436-437, issn 0340-6997Article

Brachydactyly in acrosyndactylyBURGESS, R. C.The Journal of hand surgery (St. Louis, Mo.). 1991, Vol 16A, Num 1, pp 125-126, issn 0363-5023, 2 p.Article

Brachydactylie avec anonychie = Brachydactylie with anonychiaTENNSTEDT, D; LACHAPELLE, J.-M; BARAN, R et al.Annales de dermatologie et de vénéréologie. 1985, Vol 112, Num 11, pp 901-905, issn 0151-9638Article

Über das Pippow-Syndrom = La dysostose cheirolombaire = Pippow's syndromeKRETZSCHMAR, R.Der Radiologe (Berlin. Print). 1988, Vol 28, Num 6, pp 289-293, issn 0033-832XArticle

Brachydactyly type A2 associated with a defect in proGDF5 processingPLÖGER, Frank; SEEMANN, Petra; SCHMIDT-VON KEGLER, Mareen et al.Human molecular genetics (Print). 2008, Vol 17, Num 9, pp 1222-1233, issn 0964-6906, 12 p.Article

Confirmation of the catania brachydactylous type of acrofacial dysostosis : Report of a second familyWULFSBERG, E. A; CAMPBELL, A. B; LURIE, I. W et al.American journal of medical genetics. 1996, Vol 63, Num 4, pp 554-557, issn 0148-7299Article

Exencephaly in autosomal dominant brachydactyly syndromeSTAGIANNIS, K. D; SEPULVEDA, W; FUSI, L et al.Prenatal diagnosis. 1995, Vol 15, Num 1, pp 70-73, issn 0197-3851Article

Is brachydactyly type ballard a variant of brachydactyly type E?JENSEN, Kimberly; HOO, Joe J.American journal of medical genetics. 2004, Vol 129A, Num 1, pp 95-97, issn 0148-7299, 3 p.Article

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1BO GAO; JINGZHI GUO; CHAOWEN SHE et al.Nature genetics. 2001, Vol 28, Num 4, pp 386-388, issn 1061-4036Article

Komplexes Symphalgiesyndrom mit Brachydaktylien, humeroradialer Synostose sowie weiteren multiphen gelenkdysplasien = Symphalangie complexe avec brachydactylie et synostose huméroradiale et malformations articulaires variées = Complex symphalangism with brachydactyly syndrom humeroradial synostosis and various joint malformationsSCHUMACHER, K. A; WOLF, M; FRIEDRICH, J. M et al.Röntgen-Blätter. 1988, Vol 41, Num 5, pp 211-214, issn 0300-8592Article

POLAND'S SYNDROME WITH RADIAL APLASIA OF THE HANDDE SMET, L.Genetic counseling. 2013, Vol 24, Num 1, pp 57-59, issn 1015-8146, 3 p.Article

A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and PtosisUTINE, Gülen Eda; BRECKPOT, Jeroen; THIENPONT, Bernard et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 947-949, issn 1552-4825, 3 p.Article

Dominant versus recessive traits conveyed by allelic mutations -to what extent is nonsense-mediated decay involved?BEN-SHACHAR, S; KHAJAVI, M; WITHERS, M. A et al.Clinical genetics. 2009, Vol 75, Num 4, pp 394-400, issn 0009-9163, 7 p.Article

A Girl With Distinctive Features of Borderline High Blood Pressure, Short Stature, Characteristic Brachydactyly, and 11.47 Mb Deletion in 12p11.21―12p12.2 by Oligonucleotide Array CGHLU, Hong-Yong; CUI, Ying-Xia; SHI, Yi-Chao et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 10, pp 2321-2323, issn 1552-4825, 3 p.Article

Compound Heterozygosity for GDF5 in Du Pan Type ChondrodysplasiaDOUZGOU, Sofia; LEHMANN, Katarina; MINJARELLI, Rita et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 16, pp 2116-2121, issn 1552-4825, 6 p.Article

Research letter. Recurrence of the d100n mutation in a chinese family with brachydactyly type A1: Evidence for a mutational hot spot in the Indian Hedgehog geneGUOMING ZHU; XIN KE; QIJI LIU et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 11, pp 1246-1248, issn 1552-4825, 3 p.Article

Molecular cytogenetic analysis of five 2q37 deletions : refining the brachydactyly candidate regionCHAABOUNI, M; LE MERRER, M; RAOUL, O et al.European journal of medical genetics. 2006, Vol 49, Num 3, pp 255-263, issn 1769-7212, 9 p.Article

Growth deficiency, facial anomalies, and brachydactyly (Frías Syndrome) : A second familyMARTINEZ-FRIAS, Maria Luisa; FERNANDEZ TORAL, Joaquin; LOPEZ-GRONDONA, Fermina et al.American journal of medical genetics. 2005, Vol 137A, Num 3, pp 288-291, issn 0148-7299, 4 p.Article

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaCHASSAING, Nicolas; SIANI, Virginie; SAURA, Robert et al.American journal of medical genetics. 2005, Vol 136A, Num 4, pp 307-312, issn 0148-7299, 6 p.Article

An unusual family with brachydactylySILVA, Elias O.American journal of medical genetics. 2003, Vol 117A, Num 2, pp 191-193, issn 0148-7299, 3 p.Article

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation familyGIORDANO, N; GENNARI, L; MARTINI, G et al.Journal of medical genetics. 2003, Vol 40, Num 2, pp 132-135, issn 0022-2593, 4 p.Article

Short trunk stature, brachydactyly, and platyspondyly in three sibs: A new form of brachyolmia or a new skeletal dysplasia?TÜYSÜZ, Beyhan; ÜNGÜR, Savas.American journal of medical genetics. 2003, Vol 119A, Num 3, pp 375-380, issn 0148-7299, 6 p.Article

Spondyloepiphyseal dysplasia maroteaux type: Report of three patients from two families and exclusion of type II collagen defectsNISHIMURA, Gen; KIZU, Rika; HASEGAWA, Tomonobu et al.American journal of medical genetics. 2003, Vol 120A, Num 4, pp 498-502, issn 0148-7299, 5 p.Article

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolvedMCCREADY, M. Elizabeth; SWEENEY, Elizabeth; FRYER, Allan E et al.Human genetics. 2002, Vol 111, Num 4-5, pp 368-375, issn 0340-6717Article

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationMEGARBANE, André; BEJJANI, Bassem A; SHAFFER, Lisa G et al.American journal of medical genetics. 2002, Vol 108, Num 1, pp 69-74, issn 0148-7299Article

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