Loeys-Dietz-Syndrom

Attias D et al. (2009) Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

None (2008) Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.

Furlong J et al. (1987) New Marfanoid syndrome with craniosynostosis.

Jondeau G et al. (2016) International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

Lacombe D et al. (1993) Marfanoid features and craniosynostosis: report of one case and review.

MacCarrick G et al. (2014) Loeys-Dietz syndrome: a primer for diagnosis and management.

Mégarbané A et al. (1998) Craniosynostosis and marfanoid habitus without mental retardation: report of a third case.

Schepers D et al. (2018) A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Sheikhzadeh S et al. (2014) Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Sanford LP et al. (1997) TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.

Boileau C et al. (1990) Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

Boileau C et al. (1995) Reply to "The question of heterogeneity in Marfan syndrome"

Chung BH et al. (2014) Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

Collod G et al. (1994) A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Collod G et al. (1996) Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.

Dietz H et al. (1995) The question of heterogeneity in Marfan syndrome.

None (1994) Marfan syndrome or Marfan-like connective-tissue disorder.

Watanabe Y et al. (2008) Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

Boileau C et al. (1993) Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

De Paepe A et al. (1996) Revised diagnostic criteria for the Marfan syndrome.

Drera B et al. (2008) Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Mátyás G et al. (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Nicod P et al. (1989) Familial aortic dissecting aneurysm.

Tran-Fadulu V et al. (2009) Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Azhar M et al. (2003) Transforming growth factor beta in cardiovascular development and function.

Adès LC et al. (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

Disabella E et al. (2006) Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

Hasham SN et al. (2003) Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

Ito Y et al. (2003) Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.

Kirmani S et al. (2010) Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

Kosaki K et al. (2006) Molecular pathology of Shprintzen-Goldberg syndrome.

Mizuguchi T et al. (2004) Heterozygous TGFBR2 mutations in Marfan syndrome.

Pannu H et al. (2005) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.