N Karlberg, H Jalanko, J Kallijärvi, AE Lehesjoki, M … - Diabetes, 2005 - Am Diabetes Assoc We evaluated the glucose and lipid metabolism in 65 patients (aged 1.1–55 years) with mulibrey
(muscle-liver-brain-eye) nanism (MUL), which is a monogenic disorder with prenatal-onset growth
failure and typical clinical characteristics. MUL is caused by mutations in the TRIM37 ... Cited by 11 - Related articles - BL Direct - All 7 versions
AE Lehesjoki, VA Reed, R Mark Gardiner, NDE … - Mechanisms of …, 2001 - Elsevier Northern blot analysis of MUL indicated widespread expression in adult tissues (Avela et al.,
2000). MUL encodes a predicted 108 kDa member of the RING-B-Box-Coiled-Coil (RBCC) protein
family. The RING-finger motif is found in many proteins and has been implicated in ... Cited by 10 - Related articles - All 4 versions
RH Hämäläinen, K Avela, JA Lambert, J Kallijärvi, W … - Hum Mutat, 2004 - interscience.wiley.com Mulibrey nanism is an autosomal recessive prenatal-onset growth disorder of unknown
pathogenesis. The main clinical features are pre- and postnatal growth failure, characteristic
dysmorphic craniofacial features, heart disease, and hepatomegaly. Five truncating ... Cited by 7 - Related articles - All 2 versions
S Karlberg, A Tiitinen, M Lipsanen- … - The New England Journal …, 2004 - nejm.highwire.org By periodically accessing EIN and other e-mail lists, members throughout the world participate
in the passive surveillance of infectious-disease outbreaks. Eric V. Granowitz, MD Baystate Medical
Center Springfield, MA 01199 eric.granowitz@bhs.org Arjun Srinivasan, MD Centers for ... Cited by 11 - Related articles - All 5 versions
P Jagiello, C Hammans, S Wieczorek, L Arning, … - Human …, 2003 - interscience.wiley.com Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted
disease characterized by severe growth delays of prenatal onset caused by mutations in the
TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 ( ... Cited by 13 - Related articles - BL Direct - All 5 versions
- ►bmj.com N Karlberg, H Jalanko, J Perheentupa, M Lipsanen- … - British Medical …, 2004 - jmg.bmj.com ] ABSTRACT Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations
in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this
work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of ... Cited by 21 - Related articles - BL Direct - All 8 versions
- ►ahajournals.org M Lipsanen-Nyman, J Perheentupa, J Rapola, A … - Circulation, 2003 - Am Heart Assoc Methods and Results— We studied 49 patients (26 men) born before 1985 and followed for up
to 25 years. By 1999, 25 patients (51%) had developed congestive heart failure (CHF), 19
(39%) had undergone pericardiectomy for constrictive pericarditis, 10 (22%) had died of ... Cited by 22 - Related articles - BL Direct - All 9 versions
J Kallijärvi, RH Hämäläinen, N Karlberg, K Sainio, … - Histochemistry and cell …, 2006 - Springer Abstract Mutations in the TRIM37 gene underlie muli- brey nanism (muscle–liver–brain–eye
nanism), a rare monogenic developmental disorder characterized by se- vere growth failure,
characteristic dysmorphic features, cardiopathy, failure of sexual maturation, and ... Cited by 5 - Related articles - BL Direct - All 6 versions
- ►nih.gov J Kallijärvi, K Avela, M Lipsanen-Nyman, I Ulmanen … - The American Journal of …, 2002 - Elsevier Mulibrey nanism is a rare growth disorder of prenatal onset caused by mutations in the TRIM37
gene, which encodes a RING-B-box-coiled-coil protein. The pathogenetic mechanisms of mulibrey
nanism are unknown. We have used transiently transfected cells and antibodies raised ... Cited by 23 - Related articles - BL Direct - All 9 versions
RH Hämäläinen, D Mowat, MT Gabbett, TA O' … - Clinical …, 2006 - interscience.wiley.com Mulibrey nanism is a rare autosomal recessive growth disorder with prenatal onset, including
occasional progressive cardiopathy, characteristic facial features, failure of sexual
maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor. ... Cited by 3 - Related articles - All 4 versions
