Add to ORKGTBX5 mutations cause the cardiac and limb defects of the autosomal dominant Holt-Oram syndrome (HOS). We have explored the role of the TBX5 transcription factor during cardiogenesis and have elucidated some of its functions in regulating myocardial cell proliferation and proepicardial cell migration. Our identification of TBX5 mutations has enabled us to offer genetic testing for diagnosis of HOS in patients and also to perform preimplantation genetic diagnosis on blastocysts for couples desiring to have a child unaffected by HOS. We hope that our genetic testing approach will serve as a paradigm for mutation screening in other inherited syndromes. © 2006 Wiley-Liss, Inc
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
The T-box transcription factor Tbx5 is important in mammalian cardiac development. Mutations in the ...
Mutations in TBX5, a T-box–containing transcription factor, cause cardiac and limb malformations in ...
The Holt-Oram syndrome (OMIM 142900) is an autosomaldominant disorder with clinical features charact...
Holt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathoge...
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac...
AbstractHeterozygous Tbx5del/+ mice were generated to study the mechanisms by which TBX5 haploinsuff...
WOS: 000337075700014PubMed ID: 24408148Holt-Oram Syndrome (HOS) is a rare autosomal dominant conditi...
AbstractHeterozygous Tbx5del/+ mice were generated to study the mechanisms by which TBX5 haploinsuff...
textabstractAimsHolt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper ...
TBX5 is a member of the T-box transcription factor family and is primarily known for its role in car...
Mutations in the TBX5 transcription factor gene cause human cardiac malformation in Holt-Oram syndro...
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
The T-box transcription factor Tbx5 is important in mammalian cardiac development. Mutations in the ...
Mutations in TBX5, a T-box–containing transcription factor, cause cardiac and limb malformations in ...
The Holt-Oram syndrome (OMIM 142900) is an autosomaldominant disorder with clinical features charact...
Holt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathoge...
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac...
AbstractHeterozygous Tbx5del/+ mice were generated to study the mechanisms by which TBX5 haploinsuff...
WOS: 000337075700014PubMed ID: 24408148Holt-Oram Syndrome (HOS) is a rare autosomal dominant conditi...
AbstractHeterozygous Tbx5del/+ mice were generated to study the mechanisms by which TBX5 haploinsuff...
textabstractAimsHolt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper ...
TBX5 is a member of the T-box transcription factor family and is primarily known for its role in car...
Mutations in the TBX5 transcription factor gene cause human cardiac malformation in Holt-Oram syndro...
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by t...