Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

By Twigg Stephen R.F.   Babbs Christian   van den Elzen Marijke E.P.   Goriely Anne   Taylor Stephen   McGowan Simon J.   Giannoulatou Eleni   Lonie Lorne   Ragoussis Jiannis   Akha Elham Sadighi   Knight Samantha J.L.   Zechi-Ceide Roseli M.   Hoogeboom Jeannette A.M.   Pober Barbara R.   Toriello Helga V.   Wall Steven A.   Rita Passos-Bueno M.   Brunner Han G.   Mathijssen Irene M.J.   Wilkie Andrew O.M.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1654-1662

Oxford University Press

Access to resources Recommend Favorite

A Novel Locus for Non-syndromic Sensorineural Deafness ( DFN6 ) Maps to Chromosome Xp22

By del Castillo Ignacio   Villamar Manuela   Sarduy Maritza   Romero Lourdes   Herraiz Carlos   Javier Hernández F.   Rodríguez Mariano   Borrás Isabel   Montero Ángeles   Bellón Joaquín   Cruz Tapia M.   Moreno Felipe  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1383-1387

Oxford University Press

Access to resources Recommend Favorite

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

By Budny Bartlomiej   Chen Wei   Omran Heymut   Fliegauf Manfred   Tzschach Andreas   Wisniewska Marzena   Jensen Lars   Raynaud Martine   Shoichet Sarah   Badura Magda   Lenzner Steffen   Latos-Bielenska Anna   Ropers Hans-Hilger  

Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 171-178

Springer Publishing Company

Access to resources Recommend Favorite

Gene expression analysis in a canine model of X-linked Alport syndrome

By Greer Kimberly   Higgins Marnie   Cox Melissa   Ryan Timothy   Berridge Brian   Kashtan Clifford   Lees George   Murphy Keith  

Mammalian Genome, Vol. 17, Iss. 9, 2006-09 ,pp. : 976-990

Springer Publishing Company

Access to resources Recommend Favorite

X-linked cataract and Nance-Horan syndrome are allelic disorders

By Coccia Margherita   Brooks Simon P.   Webb Tom R.   Christodoulou Katja   Wozniak Izabella O.   Murday Victoria   Balicki Martha   Yee Harris A.   Wangensteen Teresia   Riise Ruth   Saggar Anand K.   Park Soo-Mi   Kanuga Naheed   Francis Peter J.   Maher Eamonn R.   Moore Anthony T.   Russell-Eggitt Isabelle M.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2643-2655

Oxford University Press

Access to resources Recommend Favorite