Ajl Clark
St Bartholomew's Hospital
Network
Latest external collaboration on country level. Dive into details by clicking on the dots.
Publication
Featured researches published by Ajl Clark.
Acta Paediatrica | 1999
K. A. Woods; Ajl Clark; S. Amselem; Martin O. Savage
Woods KA, Clark AJL, Amselem S, Savage MO. Relationship between phenotype and genotype in growth hormone insensitivity syndrome. Acta Pædiatr 1999; Suppl 428: 158–62. Stockholm. ISSN 0803–5326
Archives De Pediatrie | 1998
Martin O. Savage; Katie A. Woods; Ajl Clark; S. Amselem
Growth hormone (GH) insensitivity is associated with several different mutations of the GH receptor gene and a recently described new genetic disorder of the IFGI gene. The phenotype and biochemical characteristics were studied in 82 patients with growth hormone insensitivity, from 23 different countries, with a mean age of 8.25 years. Mean height SDS was -6.09. SDS of the IGF binding protein -3 (IGF BP3) was 7.99. Twenty three per cent of the patients were GH binding protein (GHBP) positive (> 10%). Mean height SDS score was -6.5 in the GHBP negative patients and -4.9 in the GHBP positive patients (p < 0.001). Fifteen different mutations of the GH receptor gene were identified in 27 patients. There were no relationships between the type of mutation or the involved GH receptor gene exon and height or IGFBP-3 SDS. The new phenotype due to a partial deletion of the IGFI gene was described in a 15-year-old boy who presented with a severe intrauterine growth retardation, a very poor postnatal statural growth, a neurosensorial deafness and a mild mental retardation. He had elevated GH levels, normal levels of IGFBP3, undetectable levels of IGFI, and showed no response to GH treatment. A partial deletion concerning the exons 4 and 5 of the IGFI gene was found. Thus, GH insensitivity is associated with large variations in the clinical and biochemical phenotypes.
Acta bio-medica de L'Ateneo parmense : organo della Società di medicina e scienze naturali di Parma | 2000
Martin O. Savage; Katie A. Woods; Linda B. Johnston; Marie Catherine Postel-Vinay; S. Amselem; Ajl Clark
Growth hormone insensitivity (GHI) describes a group of disorders characterized by deficient biological action of GH. GH insensitivity may be of primary origin, that is, related to defects in genes coding for functional proteins essential for GH action or secondary to acquired pathology such as inflammatory or nutritional disorders. This article will describe GH insensitivity of primary origin, which in children presents as growth failure leading to adult short stature. Metabolic symptoms, such as hypoglycaemia, may also occur. Cardinal biochemical features are normal or elevated GH secretion and IGF-1 deficiency. Therapy for GH insensitivity consists of recombinant human IGF-1, which can lead to height gain resulting in catch-up growth and adult height within the normal range.
Human Molecular Genetics | 1996
Angela Weber; Thomas F. Wienker; Martin Jung; Douglas D. Easton; Heather J. Dean; Claudine Heinrichs; André Reis; Ajl Clark
Growth Hormone & Igf Research | 1999
Martin O. Savage; Katie A. Woods; Linda B. Johnston; Marie Catherine Postel-Vinay; Serge Amselem; Ajl Clark
Growth Hormone & Igf Research | 2008
Cecilia Camacho-Hübner; A. David; S. Rose; L. Metherell; Ajl Clark; Martin O. Savage
Clinical Science | 2003
Fm Swords; Ah Baig; Cd Malchoff; Df Malchoff; Mo Thorner; L Hunyady; Ajl Clark
Clinical Science | 2003
Fm Swords; S Aylwin; L Perry; J Arola; Ajl Clark
Clinical Science | 2003
Fm Swords; Louise A. Metherell; J. Arola; Ajl Clark
Archives De Pediatrie | 1998
Martin O. Savage; Katie A. Woods; Ajl Clark; Serge Amselem