De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction von Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.

Volltext

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome von Baker, Stuart, Booth, Carol, Fillman, Corrine, Shapiro, Michael, Blair, Michael P., Hyland, James C., Ala-Kokko, Leena

Volltext

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and prot... von Marini, Joan C., Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., San Antonio, James D., Milgrom, Sarah, Hyland, James C., Körkkö, Jarmo, Prockop, Darwin J., De Paepe, Anne, Coucke, Paul, Symoens, Sofie, Glorieux, Francis H., Roughley, Peter J., Lund, Alan M., Kuurila-Svahn, Kaija, Hartikka, Heini, Cohn, Daniel H., Krakow, Deborah, Mottes, Monica, Schwarze, Ulrike, Chen, Diana, Yang, Kathleen, Kuslich, Christine, Troendle, James, Dalgleish, Raymond, Byers, Peter H.

Volltext

A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome von BAKER, Stuart, BOOTH, Carol, FILLMAN, Corrine, SHAPIRO, Michael, BLAIR, Michael P, HYLAND, James C, ALA-KOKKO, Leena

Volltext

Similarity of geleophysic dysplasia and weill-marchesani syndrome von Kochhar, Aaina, Kirmani, Salman, Cetta, Frank, Younge, Brian, Hyland, James C., Michels, Virginia

Volltext

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database von Collod‐Béroud, Gwenaëlle, Le Bourdelles, Saga, Ades, Lesley, Ala‐Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C., Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine

Volltext

Ectopia lentis as the presenting and primary feature in Marfan syndrome von Zadeh, Neda, Bernstein, Jonathan A., Niemi, Anna Kaisa, Dugan, Sarah, Kwan, Andrea, Liang, David, Hyland, James C., Hoyme, H. Eugene, Hudgins, Louanne, Manning, Melanie A.

Volltext

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients von Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena

Volltext

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the... von Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves

Volltext

Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension von Schievink, Wouter I., Gordon, Ora K., Hyland, James C., Ala-Kokko, Leena

Volltext

Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition von Sutherell, Jamie, Zarate, Yuri, Tinkle, Bradley T., Markham, Larry W., Cripe, Linda H., Hyland, James C., Witte, David, Hopkin, Robert J., Hinton, Robert B.

Volltext

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients von Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena

Volltext

A dominantly inherited spondylometaphyseal dysplasia with “corner fractures” and congenital scoliosis von Sutton, V. Reid, Hyland, James C., Phillips, William A., Schlesinger, Alan E., Brill, Paula W.

Volltext

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene von Pousi, Birgitta, Hautala, Timo, Hyland, James C., Schröter, Jukka, Eckes, Beate, Kivirikko, Kari I., Myllylä, Raili

Volltext

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients: OI AND GENOTYPE-PHENOTYPE CORRELATION von Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena

Volltext

Skin and Connective Tissue Disorders von Hyland, James C.

Volltext

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the... von Wood, Kirsten A, Zambrano, Regina M, Cheek, Bradley J, Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C, Lacassie, Yves

Volltext

A dominantly inherited spondylometaphyseal dysplasia with "corner fractures" and congenital scoliosis von Sutton, V. Reid, Hyland, James C., Phillips, William A., Schlesinger, Alan E., Brill, Paula W.

Volltext

Novel Fibrillin 1 Mutation in a Case of Neonatal Marfan Syndrome: The Increasing Importance of Early Recognition von Sutherell, Jamie, Zarate, Yuri, Tinkle, Bradley T., Markham, Larry W., Cripe, Linda H., Hyland, James C., Witte, David, Hopkin, Robert J., Hinton, Robert B.

Volltext

Beyond Cloth and Cordage: Archaeological Textile Research in the Americas von Drooker, Penelope B, Webster, Laurie D

Volltext