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Scholar Results 1 - 10 of about 101 related to Biason-Lauber: Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused.... (0.09 sec) 

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel …

- diabetesjournals.org
A Biason-Lauber, M Lang-Muritano, T … - Diabetes, 2002 - Am Diabetes Assoc
Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized
by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and growth
retardation. Mutations in the EIF2AK3 gene, encoding the eukaryotic ...
Cited by 31 - Related articles - BL Direct - All 5 versions

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation …

- bmj.com [PDF] 
S Brickwood, DT Bonthron, LI Al-Gazali, K … - British Medical Journal, 2003 - jmg.bmj.com
W olcott-Rallison syndrome (OMIM 226980) is a rare autosomal recessive disorder
characterised by per- manent insulin requiring diabetes developing in the
newborn period or early infancy, an early tendency to skeletal fractures, ...
Cited by 24 - Related articles - BL Direct - All 11 versions

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and …


P Castelnau, M Le Merrer, C Diatloff-Zito, E … - European journal of pediatrics, 2000 - Springer
3. Gri n JW, Cornblath DR, Alexander E, Campbell J, Low PA, Bird S, Feldman EL
(1990) Ataxic sensory neuropathy and dorsal root ganglionitis associated with
SjoÈgren's syndrome. Ann Neurol 27: 304±415 4. Kobayashi I, Furuta H, ...
Cited by 22 - Related articles - BL Direct - All 3 versions

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in …


S Iyer, M Korada, L Rainbow, J Kirk, RM … - Acta Paediatrica, 2004 - interscience.wiley.com
Background: Wolcott-Rallison syndrome is a rare autosomal recessive condition
characterized by early infancy onset diabetes mellitus and multiple epiphyseal
dysplasia. So far, 17 children have been described in the world literature. ...
Cited by 21 - Related articles - BL Direct - All 8 versions

Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism


B Bin-Abbas, A Al-Mulhim, A Al-Ashwal - American journal of medical genetics, 2002 - interscience.wiley.com
Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal
insufficiency, developmental delay, and skeletal epiphyseal dysplasia are
described. Clinical presentation and radiological features are suggestive ...
Cited by 13 - Related articles - All 3 versions

Wolcott-Rallison syndrome


LI Al-Gazali, S Makia, A Azzam, CM Hall - Clinical Dysmorphology, 1995 - journals.lww.com
Page 1. Page 2. Page 3. Page 4. Page 5. Page 6. Page 7.
Cited by 22 - Related articles - All 2 versions

Wolcott-Rallison Syndrome

- diabetesjournals.org
V Senée, KM Vattem, M Delépine, LA Rainbow … - Diabetes, 2004 - Am Diabetes Assoc
Wolcott-Rallison syndrome (WRS) is a rare autosomal-recessive disorder
characterized by the association of permanent neonatal or early-infancy
insulin-dependent diabetes, multiple epiphyseal dysplasia and growth ...
Cited by 54 - Related articles - BL Direct - All 8 versions

Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia*


CD Wolcott, ML Rallison - The Journal of Pediatrics, 1972 - Elsevier
2 9 2 Brief clinical and laboratory observations The ]ournal of Pediatrics
February 1972 Fig. 2. The assembled device ready for use. of the mouth and
pharynx without the need for the hands of attendants to be placed under the ...
Cited by 65 - Related articles - All 4 versions

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion …


FJ Stewart, DJ Carson, PS Thomas, M … - Clinical genetics, 1996 - interscience.wiley.com
Wolcott-Rallison syndrome is a rare autosomal recessive condition first
described in 1972. It is characterised by diabetes mellitus which arises in
early infancy and multiple epiphyseal dysplasia. We describe an affected ...
Cited by 14 - Related articles - BL Direct - All 3 versions

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with …


F Durocher, R Faure, Y Labrie, L Pelletier, I … - Clinical genetics, 2006 - interscience.wiley.com
Mutations in the EIF2AK3 gene have been identified in patients with
Wolcott–Rallison syndrome – a rare autosomal recessive disorder associated
with permanent neonatal insulin-dependent diabetes. Despite the fact that ...
Cited by 6 - Related articles - BL Direct - All 5 versions


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