Jan Hellemans

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height (2009)

Buysse, Karen, Reardon, William, Mehta, Lakshmi, Costa, Teresa, Fagerstrom, Carrie, Kingsbury, Daniel J., ...

Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This...

RDML: structured language and reporting guidelines for real-time quantitative PCR data (2009)

Lefever, Steve, Hellemans, Jan, Pattyn, Filip, Przybylski, Daniel R., Taylor, Chris, Geurts, René, ...

The XML-based Real-Time PCR Data Markup Language (RDML) has been developed by the RDML consortium (http://www.rdml.org) to enable straightforward exchange of qPCR data and related information between...

LEDMD3 and osteopoikilosis, the Buschke-Ollendorf syndrome and melorheostosis (2008)

Hellemans, Jan, Mortier, Geert

IHH and acrocapitofemoral dysplasia and brachydactyly A1 (2008)

Hellemans, Jan, Mortier, Geert

Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene (2008)

Gass, Julia, Hellemans, Jan, Mortier, Geert, Griffiths, Meryl, Burrows, Nigel P

The heterozygous Lemd3 knock-out mouse : a murine model for osteopoikilosis in humans? (2008)

Dheedene, Annelies, Deleye, Steven, Hellemans, Jan, Staelens, Steven, Vandenberghe, Stefaan, Mortier, Geert

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data (2007)

Hellemans, Jan, Mortier, Geert, De Paepe, Anne, Speleman, Frank, Vandesompele, Jo

Abstract Although quantitative PCR (qPCR) is becoming the method of choice for expression profiling of selected genes, accurate and straightforward processing of the raw measurements remains a major...

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa (2007)

Coppieters, Frauke, Leroy, Bart, Beysen, Diane, Hellemans, Jan, De Bosscher, Karolien, Haegeman, Guy, ...

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data (2007)

Hellemans, Jan, Mortier, Geert, De Paepe, Anne, Speleman, Franki, Vandesompele, Jo

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 (2007)

Menten, Björn, Buysse, Karen, ZAHIR, F, Hellemans, Jan, HAMILTON, SJ, COSTA, T, ...

Buschke-Ollendorff syndrome: a manifestation of LEMD3 mutation (2006)

GASS, J, GRIFFITHS, M, Hellemans, Jan, Mortier, Geert, BURROWS, N

Buschke-Ollendorff syndrome with LEMD3 mutation but no loss of heterozygosity in localised asymmetric skin plaque (2006)

PRESTON, PW, Hellemans, Jan, Mortier, Geert, MOSS, C

Germline LEMD3 Mutations Are Rare in Sporadic Patients With Isolated Melorheostosis (2006)

Hellemans, Jan, Debeer, Philippe, Wright, Michael, Janecke, Andreas, Kjaer, Klaus W, Verdonk, Peter CM, ...

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...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, ...

Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children1, 2, 3. Identification of four genes mutated in NPHP subtypes 1−4 (refs. 4−9) has linked the...

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin (2005)

OTTO, EA, LOEYS, B, KHANNA, H, Hellemans, Jan, SUDBRAK, R, FAN, SL, ...

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

Loeys, Bart, CHEN, JJ, NEPTUNE, ER, JUDGE, DP, PODOWSKI, M, HOLM, T, ...

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...

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

Hellemans, Jan, PREOBRAZHENSKA, O, Willaert, Andy, DEBEER, P, Verdonk, Peter, COSTA, T, ...

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone- shaped epiphyses in hands and hips (2003)

Hellemans, Jan, Coucke, Paul, GIEDION, A, De Paepe, Anne, KRAMER, P, BEEMER, F, ...

The beneficial effect of acute viral-hepatitis on active crohns-disease (1981)

Janssens, Jozef, Hellemans, Jan

Is return of peristalsis in treated achalasia patients a real change in motility disorder - reply (1980)

Janssens, Jozef, Hellemans, Jan

Perforation of the cardia by pneumatic dilatations can be treated by conservative means (1980)

Hellemans, Jan

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,...

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

Hellemans, Jan, Mortier, Geert, De Paepe, Anne, Speleman, Frank, Vandesompele, Jo

qBase, a free program for the management and automated analysis of qPCR data, is described

RDML: structured language and reporting guidelines for real-time quantitative PCR data

Lefever, Steve, Hellemans, Jan, Pattyn, Filip, Przybylski, Daniel R., Taylor, Chris, Geurts, René, ...

The XML-based Real-Time PCR Data Markup Language (RDML) has been developed by the RDML consortium (http://www.rdml.org) to enable straightforward exchange of qPCR data and related information between...