Geert R. Mortier

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies (2007)

Hoornaert, Kristien P, Bartholdi, Deborah, Bouma, Mieke C, Bouman, Katelijne, Carrera, Marta, ...

A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or...

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis (2006)

Wright, Michael, Janecke, Andreas, Kjaer, Klaus W, Verdonk, Peter C M, ...

To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff...

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis (2004)

Hellemans, Jan, Preobrazhenska, Olena; U0041254, Willaert, Andy, Debeer, Philippe; U0002219, Verdonk, Peter C M, Costa, Teresa, ...

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual...

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux (2004)

Bartels,Cynthia F., Bükülmez,Hülya, Padayatti,Pius, Rhee,David K., Van Ravenswaaij-Arts,Conny, Pauli,Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux (2004)

Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., Pauli, Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. (2004)

Bartels, Cynthia F., B K Lmez, H Lya, Padayatti, Pius, Rhee, David K., Pauli, Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...

Hyperekplexia associated with compound heterozygote mutations in the ß-subunit of the human inhibitory glycine receptor (GLRB) (2002)

Rees, Mark Ian, Lewis, Trevor M., Kwok, John B. J., Mortier, Geert R., Govaert, Paul, Snell, Russell G., ...

Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the {alpha}1-subunit (GLRA1) of the heteropentameric human...

Hyperekplexia associated with compound heterozygote mutations in the ß-subunit of the human inhibitory glycine receptor (GLRB) (2002)

Rees, Mark Ian, Lewis, Trevor M., Kwok, John B. J., Mortier, Geert R., Govaert, Paul, Snell, Russell G., ...

Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the {alpha}1-subunit (GLRA1) of the heteropentameric human...

Hyperekplexia associated with compound heterozygote mutations in the {beta}-subunit of the human inhibitory glycine receptor (GLRB) (2002)

Rees, Mark I., Lewis, Trevor M., Kwok, John B. J., Mortier, Geert R., Govaert, Paul, Snell, Russell G., ...

Hyperekplexia (MIM: 149400) is a neurological disorder characterized by an excessive startle response which can be caused by mutations in the α1-subunit (GLRA1) of the heteropentameric human...

University Hospital of (1999)

Email Alerting, Geert R Mortier, Maryann Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, ...

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, ...

Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses,...

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., Van Ravenswaaij-Arts, Conny, Pauli, Richard M., ...

The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on binding...