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Number of items: 106.

A

Achermann, JC (2001) Highlights of the 6th Joint Meeting of the European Society for Paediatric Endocrinology (ESPE) & Lawson Wilkins Pediatric Endocrinology Society (LWPES). Highlights , 9 (3) 1 - 16.

Achermann, JC (2001) The molecular genetics of hypogonadotropic hypogonadism. Clin Pediatr Endocrinol , 10 (16) 21 - 30.

Achermann, JC and Ito, M and Silverman, BL and Habiby, RL and Pang, S and Rosler, A and Jameson, JL (2001) Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. J CLIN ENDOCR METAB , 86 (7) 3171 - 3175.

Achermann, JC and Jameson, JL (2001) Advances in the molecular genetics of hypogonadotropic hypogonadism. J PEDIATR ENDOCR MET , 14 (1) 3 - 15.

Achermann, JC and Meeks, JJ and Jameson, JL (2001) Phenotypic spectrum of mutations in DAX-1 and SF-1. MOLECULAR AND CELLULAR ENDOCRINOLOGY , 185 (1-2) 17 - 25.

Achermann, JC and Meeks, JJ and Jeffs, B and Das, U and Clayton, PE and Brook, CGD and Jameson, JL (2001) Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia. MOL GENET METAB , 73 (4) 354 - 357. 10.1006/mgme.2001.3202.

Achermann, JC and Silverman, BL (2001) Dehydroepiandrosterone replacement for patients with adrenal insufficiency. LANCET , 357 (9266) 1381 - 1382.

Achermann, JC and Weiss, J and Lee, EJ and Jameson, JL (2001) Inherited disorders of the gonadotropin hormones. MOLECULAR AND CELLULAR ENDOCRINOLOGY , 179 (1-2) 89 - 96.

Al-Shaikh, HAJ and Brook, CGD and Hindmarsh, PC (2001) Evaluation of the combination of GnRH and HCG tests in differentiating constitutional delay of growth and puberty from hypogonadotropic hypogonadism in males. ANN SAUDI MED , 21 (3-4) 230 - 233.
An open access publication

Albanese, A and Hindmarsh, P and Stanhope, R (2001) Management of hyponatraemia in patients with acute cerebral insults. Archives of Disease in Childhood , 85 (3) 246 - 251.

B

Bahadur, G and Hindmarsh, P and Ralph, D (2001) Fertility Preservation in children - scientific advances, research dilemmas, and ethics of consent. Archives of Disease in Childhood , 85 (5) 442 - ?.

Bahadur, G and Ralph, D and Hindmarsh, P (2001) Clarification of consent. Fertility and Sterility , 76 (4) 852 - 853.

Bahadur, G and Ralph, D and Hindmarsh, P (2001) Clarification of consent. Fertility and Sterility , 76 (4) 853 - 853.

Bahadur, G and Whelan, J and Ralph, D and Hindmarsh, P (2001) Adolescent cancer patients sperm storage, consent and emotion. Human Reproduction , 16 (11) 2474 - ?.

Bahadur, G and Whelan, J and Ralph, D and Hindmarsh, P (2001) Gaining consent to freeze sperm from adolescents with cancer: legal, ethical and practical aspects. Human Reproduction , 16 (1) 188 - 193.

Bentley, L and Monk, D and Smith, E and Edmonds, R and Hitchins, M and Preece, MA and Stanier, P and Moore, GE (2001) Analysis of imprinting in the Silver Russell Syndrome candidate gene region at 7q31-qter. In: The American Journal of Human Genetics. (pp. A2282 - A2282).

Bentley, L and Monk, D and Smith, E and Edmonds, R and Hitchins, M and Preece, MA and Stanier, P and Moore, GE (2001) Analysis of imprinting in the Silver Russell Syndrome candidate gene region at 7q31-qter. In: AM J HUM GENET. (pp. 570 - 570). UNIV CHICAGO PRESS

Bork, JM and Peters, LM and Riazuddin, S and Bernstein, SL and Ahmed, ZM and Ness, SL and Polomeno, R and Ramesh, A and Schloss, M and Srisailpathy, CRS and Wayne, S and Bellman, S and Desmukh, D and Ahmed, Z and Khan, SN and Kaloustian, VMD and Li, XC and Lalwani, A and Riazuddin, S and Bitner-Glindzicz, M and Nance, WE and Liu, XZ and Wistow, G and Smith, RJH and Griffith, AJ and Wilcox, ER and Friedman, TB and Morell, RJ (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. AM J HUM GENET , 68 (1) 26 - 37.

Braybrook, C and Doudney, K and Marcano, ACB and Arnason, A and Bjornsson, A and Patton, MA and Goodfellow, PJ and Moore, GE and Stanier, P (2001) Identification and mutation screening of candidate genes for X-linked cleft palate and ankyloglossia (CPX). In: The American Journal of Human Genetics. (pp. A2606 - A2606).

Braybrook, C and Doudney, K and Marcano, ACB and Arnason, A and Bjornsson, A and Patton, MA and Goodfellow, PJ and Moore, GE and Stanier, P (2001) Identification and mutation screening of candidate genes for X-linked cleft palate and ankyloglossia (CPX). In: AM J HUM GENET. (pp. 624 - 624). UNIV CHICAGO PRESS

Braybrook, C and Doudney, K and Marcano, ACB and Arnason, A and Bjornsson, A and Patton, MA and Goodfellow, PJ and Moore, GE and Stanier, P (2001) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. NAT GENET , 29 (2) 179 - 183.

Braybrook, C and Warry, G and Howell, G and Arnason, A and Bjornsson, A and Moore, GE and Ross, MT and Stanier, P (2001) Identification and characterization of KLHL4, a novel human homologue of the Drosophila Kelch gene that maps within the X-linked cleft palate and ankyloglossia (CPX) critical region. GENOMICS , 72 (2) 128 - 136.

Braybrook, C and Warry, G and Howell, G and Mandryko, V and Arnason, A and Bjornsson, A and Ross, MT and Moore, GE and Stanier, P (2001) Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. HUM GENET , 108 (6) 537 - 545.

Brealey, DA and Brand, MP and Greaves, IH and Heales, SJR and Land, JM and Singer, M (2001) Septic shock and mitochondrial dysfunction. BRIT J ANAESTH , 87 (2) 340P - 340P.

Brickman, JM and Clements, M and Tyrell, R and McNay, D and Woods, K and Warner, J and Stewart, A and Beddington, RSP and Dattani, M (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. DEVELOPMENT , 128 (24) 5189 - 5199.
An open access version is available from UCL Discovery
 file

C

Canevari, L and Clark, JB and Heales, SJR (2001) Oxidative stress in tetrahydrobiopterin deficiency. J NEUROCHEM , 78 91 - 91.

Carrel, T and Herman, GE and Moore, GE and Stanier, P (2001) Lack of mutations in ZIC3 in three families with neural tube defects. AM J MED GENET , 98 (3) 283 - 285.

Cerone, M and Schwartz, PJ and Priori, SG and Spazzlooni, C and Denjoy, I and Guicheny, P and Schulz-Bahr, E and Moss, AJ and Zareba, W and Hashiba, K and Tanaka, T and Bathen, J and Ameli, JP and Bitner-Glindzicz, M and Tyson, J and Timonthy, KW and Vincent, GMM and George, AL and Napolitano, C (2001) Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome. In: Circulation. (pp. 2193 - ?).

Cerrone, M and Schwartz, PJ and Priori, SG and Spazzolini, C and Denjoy, I and Guicheney, P and Schulze-Bahr, E and Moss, AJ and Zareba, W and Hashiba, K and Tanabe, T and Tanaka, T and Bathen, J and Amlie, JP and Bitner-Glindzicz, M and Tyson, J and Timothy, KW and Vincent, GMM and George, AL and Napolitano, C (2001) Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome. CIRCULATION , 104 (17) 462 - 462.

Charmandari, E and Dattani, MT and Perry, LA and Hindmarsh, PC and Brook, CGD (2001) Kinetics and effect of percutaneous administration of dihydrotestosterone in children. HORM RES , 56 (5-6) 177 - 181.

Charmandari, E and Hindmarsh, PC and Johnston, A and Brook, CGD (2001) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Alterations in cortisol pharmacokinetics at puberty. J CLIN ENDOCR METAB , 86 (6) 2701 - 2708.

Charmandari, E and Johnston, A and Brook, CGD and Hindmarsh, PC (2001) Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J ENDOCRINOL , 169 (1) 65 - 70.

Charmandari, E and Lichtarowicz-Krynska, EJ and Hindmarsh, PC and Johnston, A and Aynsley-Green, A and Brook, CGD (2001) Congenital adrenal hyperplasia: management during critical illness. ARCH DIS CHILD , 85 (1) 26 - 28.

Charmandari, E and Matthews, DR and Johnston, A and Brook, CGD and Hindmarsh, PC (2001) Serum cortisol and 17-hydroxyprogesgterone interrelation in classic 21-hydroxylase deficiency: Is current replacement therapy satisfactory? J CLIN ENDOCR METAB , 86 (10) 4679 - 4685.

Charmandari, E and Pincus, SM and Matthews, DR and Dennison, E and Fall, CHD and Hindmarsh, PC (2001) Joint growth hormone and cortisol spontaneous secretion is more asynchronous in older females than in their male counterparts. J CLIN ENDOCR METAB , 86 (7) 3393 - 3399.

Cheema, U and Goldspink, G and Yang, SY and Mudera, V and Brown, RA (2001) Precursor muscle organoids in 3D culture. In: Proceedings of the 5th Annual Conference on Cellular Engineering. (pp. 35 - 35).

Chudleigh, PM and Chitty, LS and Pembrey, M and Campbell, S (2001) The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study. Ultrasound Obstet.Gynecol. , 17 (3) 197 - 202.

Clayton, PT (2001) Applications of mass spectrometry in the study of inborn errors of metabolism. JOURNAL OF INHERITED METABOLIC DISEASE , 24 (2) 139 - 150.

Clayton, PT (2001) Clinical consequences of defects in peroxisomal beta-oxidation. BIOCHEMICAL SOCIETY TRANSACTIONS , 29 298 - 305.

Clayton, PT and Eaton, S and Aynsley-Green, A and Edginton, M and Hussain, K and Krywawych, S and Datta, V and Malingre, HE and Berger, R and van den Berg, IE (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest , 108 (3) 457 - 465. 10.1172/JCI11294.

Clayton, PT and Eaton, S and Aynsley-Green, A and Edginton, M and Hussain, K and Krywawych, S and Datta, V and Malingre, HEM and Berger, R and van den Berg, IET (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J CLIN INVEST , 108 (3) 457 - 465.
An open access version is available from UCL Discovery
 file

Cosentino, F and Barker, JE and Brand, MP and Heales, SJ and Werner, ER and Tippins, JR and West, N and Channon, KM and Volpe, M and Lüscher, TF (2001) Reactive oxygen species mediate endothelium-dependent relaxations in tetrahydrobiopterin-deficient mice. Arterioscler Thromb Vasc Biol , 21 (4) 496 - 502.

D

Dattani, MT (2001) Septo-optic dysplasia: From mouse to man. Clinical Pediatric Endocrinology , 10 (1) 89 - 95.
An open access publication

G

Gambling, L and Danzeisen, R and Gair, S and Lea, RG and Charania, Z and Solanky, N and Joory, KD and Srai, SKS and McArdle, HJ (2001) Effect of iron deficiency on placental transfer of iron and expression of iron transport <i>in vivo</i> and <i>in vitro</i>. Biochemical Journal , 356 883 - 889.

Gegg, M and Beltran, B and Moncada, S and Clark, JB and Heales, SJR (2001) Elevation of glutathione in astrocytes exposed to nitric oxide. In: J NEUROCHEM. (pp. 88 - 88). BLACKWELL SCIENCE LTD

Gegg, M and Clark, JB and Heales, SJR (2001) Mitochondrial function and glutathione status in astrocytes. In: J NEUROCHEM. (pp. 22 - 22). BLACKWELL SCIENCE LTD

Gissen, P and Chakrapani, A and Wraith, JE and Walter, JH and Leonard, JV and Buckels, J and Mayer, D and de Goyet, JD and Beath, SV and Kelly, DA and McKiernan, PJ (2001) Long-term survival post early liver transplantation in organic acidaemias. HEPATOLOGY , 34 (4) 503A - 503A.

Goldspink, G and Yang, SY (2001) Chapter 7 Gene expression associated with muscle adaptation in response to physical signals. Cell and Molecular Response to Stress , 2 (C) 87 - 96.

Goldspink, G and Yang, SY (2001) Effects of activity on growth factor expression. INT J SPORT NUTR EXE , 11 S21 - S27.

Goldspink, G and Yang, SY (2001) Gene expression associated with muscle adaptation to physical signals. In: Storey, KB and Storey, JM, (eds.) Protein Adaptations and Signal Transduction. Vol.2. (87 - 96). Elsevier

Graf, D and Timmons, PM and Hitchins, M and Episkopou, V and Moore, G and Ito, T and Fujiyama, A and Fisher, AG and Merkenschlager, M (2001) Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation. Mammalian Genome , 12 (7) 554 - 560.

H

Hargreaves, I and Rahman, S and Guthrie, P and Leonard, J and Land, J and Heales, S (2001) The diagnostic value of complex II determination in the identification of patients with mitochondrial DNA depletion. In: Journal of Inherited Metabolic Disease. (pp. 79 - ?).

Heales, SJR (2001) Catalase deficiency, diabetes, and mitochondrial function. LANCET , 357 (9252) 314 - 314.

Heales, SJR (2001) Impairment of energy production in brain mitochondria by glutathione deprivation and nitric oxide production. J NEUROCHEM , 78 120 - 120.

Hindmarsh, PC (2001) The European training syllabus in paediatric endocrinology and diabetes. HORM RES , 56 (5-6) 188 - 204.

Hitchins, MP and Abu-Amero, S and Apostolidou, S and Monk, D and Stanier, P and Preece, MA and Moore, GE (2001) Investigation of the GRB2, GRB7 and CSH1 candidate genes for the Silver Russell syndrome (SRS) suggests that anomalies of distal chromosome 17 are rare in SRS. Journal of Medical Genetics , 39 (3) e13 - ?. 10.1136/jmg.39.3.e13.

Hitchins, MP and Monk, D and Bell, GM and Ali, Z and Preece, MA and Stanier, P and Moore, GE (2001) Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB70 in Silver-Russell syndrome. EUR J HUM GENET , 9 (2) 82 - 90.

Hitchins, MP and Stanier, P and Preece, MA and Moore, GE (2001) Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J MED GENET , 38 (12) 810 - 819.

Houseman, MJ and Ellis, LA and Pagnamenta, A and Di, WL and Rickard, S and Osborn, AH and Dahl, HHM and Taylor, GR and Bitner-Glindzicz, M and Reardon, W and Mueller, RF and Kelsell, DP (2001) Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J MED GENET , 38 (1) 20 - 25.

Huang, LQ and Bitner-Glindzicz, M and Tranebjaerg, L and Tinker, A (2001) A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. CARDIOVASC RES , 51 (4) 670 - 680.

Hutchin, TP and Thompson, KR and Parker, M and Newton, V and Bitner-Glindzicz, M and Mueller, RF (2001) Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. J MED GENET , 38 (4) 229 - 231.

Hutchin, TP and Thompson, KR and Parker, M and Newton, V and Bitner-Glindzicz, M and Muller, RF (2001) Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. In: 38. (pp. 231 - ?).

J

Jacobson, J and Duchen, MR and Clark, JB and Heales, SJR (2001) Assay of mitochondrial cardiolipin content in cortical astrocytes. J NEUROCHEM , 78 25 - 25.

K

Kassem, SA and Ariel, I and Thornton, PS and Hussain, K and Smith, V and Lindley, KJ and Aynsley-Green, A and Glaser, B (2001) p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. DIABETES , 50 (12) 2763 - 2769.

Kassem, SA and Ariel, I and Thornton, PS and Hussain, K and Smith, V and Lindley, KJ and Aynsley-Green, A and Glaser, B (2001) p57KIP2 expression in normal islet cells and in hyperinsulinism of infancy. Diabetes , 50 (12) 2763 - 2769.

Kelberman, D and Tyson, J and Chandler, DC and McInerney, A and Slee, J and Calvert, M and Goldblatt, J and Haan, EA and Laing, NG and Malcolm, S and Singer, SL and Winter, RM and Bitner-Glindzicz, M (2001) Genetic heterogeneity in hemifacial microsomia: evidence for three loci at 14q32, 2q35 and 11q12-q13. In: AM J HUM GENET. (pp. 514 - 514). UNIV CHICAGO PRESS

Kelberman, D and Tyson, J and Chandler, DC and McInerney, AM and Slee, J and Albert, D and Aymat, A and Botma, M and Calvert, M and Goldblatt, J and Haan, EA and Laing, NG and Lim, J and Malcolm, S and Singer, SL and Winter, RM and Bitner-Glindzicz, M (2001) Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. HUM GENET , 109 (6) 638 - 645.

Kinsler, VA and Aylett, SE and Coley, SC and Chong, WK and Atherton, DJ (2001) Central nervous system imaging and congenital melanocytic naevi. Arch Dis Child , 84 (2) 152 - 155.

L

Land, JM and Heales, SJ and Hargreaves, IP (2001) Long walks and dark urine. In: Freedman, DB and Hooper, J and Wood, PJ and Worthington, DJ and Price, CP, (eds.) Challenges at the clinical interface: case histories for clinical biochemists. (185 - 189). AACC Press: Washington, DC.

Leonard, J and Grünewald, S and Clayton, P (2001) Diversity of congenital disorders of glycosylation. Lancet , 357 (9266) 1382 - 1383. 10.1016/S0140-6736(00)04618-3.

Liu, XZ and Blanton, SH and Bitner-Glindzicz, M and Pandya, A and Landa, B and MacArdle, B and Rajput, K and Bellman, S and Webb, BT and Ping, X and Smith, RJH and Nance, WE (2001) Haplotype analysis of the USH1D locus and genotype-phenotype correlations. CLIN GENET , 60 (1) 58 - 62.

M

Mergenthaler, S and Hitchins, MP and Blagitko-Dorfs, N and Monk, D and Wollmann, HA and Ranke, MB and Ropers, HH and Apostolidou, S and Stanier, P and Preece, MA and Eggermann, T and Kalscheuer, VM and Moore, GE (2001) Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression? AM J HUM GENET , 68 (2) 543 - 544.

Mills, K and Mills, PB and Clayton, PT and Johnson, AW and Whitehouse, DB and Winchester, BG (2001) Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology. CLIN CHEM , 47 (11) 2012 - 2022.

Mills, P and Mills, K and Clayton, P and Johnson, A and Whitehouse, D and Winchester, B (2001) Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. BIOCHEM J , 359 249 - 254.

Mills, PB and Mills, K and Johnson, AW and Clayton, PT and Winchester, BG (2001) Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis. Proteomics , 1 (6) 778 - 786. 10.1002/1615-9861(200106)1:6<778::AID-PROT778>3.0.CO;2-H.

Monk, D and Hitchens, M and Ismail, I and Temple, K and Sharp, A and Clayton-Smith, J and Preece, M and Stanier, P and Moore, GE (2001) Detailed FISH analysis of Silver-Russell syndrome (SRS) patients with cytogenetic disruption of chromosome 7p11.2-p13 define a candidate region for SRS. In: Genetical Research. (pp. 194 - 194).

Monk, D and Hitchins, M and Russo, S and Preece, M and Stanier, P and Moore, GE (2001) No evidence for mosaicism in Silver-Russell syndrome. Journal of medical genetics , 38 (4)

Moore, GE and Abu-Amero, SN and Bell, G and Wakeling, EL and Kingsnorth, A and Stanier, P and Jauniaux, E and Bennett, ST (2001) Evidence that insulin is imprinted in the human yolk sac. DIABETES , 50 (1) 199 - 203.

Moore, GE and Abu-Amero, SN and Bell, G and Wakeling, EL and Kingsnorth, A and Stanier, P and Jauniaux, E and Bennett, ST (2001) Evidence that insulin is imprinted in the human yolk sac. Diabetes , 50 (1) 199 - 203.

Moore, GE and Abu-Ameru, S and Bell, G and Wakeling, EL and Wilson, A and Stanier, P and Jauniaux, E and Bennett, ST (2001) Insulin is imprinted in the human yolk sac. Diabetes , 50 199 - 203.

O

Olpin, SE and Allen, J and Bonham, JR and Clark, S and Clayton, PT and Calvin, J and Downing, M and Ives, K and Jones, S and Manning, NJ and Pollitt, RJ and Standing, SJ and Tanner, MS (2001) Features of carnitine palmitoyltransferase type I deficiency. Journal of Inherited Metabolic Disease , 24 (1) 35 - 42.

Owino, V and Yang, SY and Goldspink, G (2001) Age-related loss of skeletal muscle function and the inability to express the autocrine form of insulin-like growth factor-1 (MGF) in response to mechanical overload. FEBS LETT , 505 (2) 259 - 263.

P

Pope, SAS and Burtin, GE and Clayton, PT and Madge, DJ and Muller, DPR (2001) New synthesis of (+/-)-alpha-CMBHC and its confirmation as a metabolite of alpha-tocopherol (Vitamin E). BIOORGAN MED CHEM , 9 (5) 1337 - 1343.

R

Rahman, S and Besley, G and Carbone, M and Robinson, B and Clayton, P (2001) Benign pyruvate carboxylase deficiency with normal development. In: Journal of Inherited Metabolic Disease. (pp. 88 - ?).

Rahman, S and Brown, RM and Chong, WK and Wilson, CJ and Brown, GK (2001) A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol , 49 (6) 797 - 800.

Rahman, S and Hargreaves, I and Clayton, P and Heales, S (2001) Neonatal presentation of coenzyme Q10 deficiency. J Pediatr , 139 (3) 456 - 458. 10.1067/mpd.2001.117575.

Rahman, S and Poulton, J and Marchington, D and Suomalainen, A (2001) Decrease of 3243 A -> G mtDNA mutation from blood in MELAS syndrome: A longitudinal study. AMERICAN JOURNAL OF HUMAN GENETICS , 68 (1) 238 - 240. 10.1086/316930.

Rickard, S and Kelsell, DP and Sirimana, T and Rajput, K and MacArdle, B and Bitner-Glindzicz, M (2001) Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J MED GENET , 38 (8) 530 - 533.

Rickard, S and Parker, M and van't Hoff, W and Barnicoat, A and Russell-Eggitt, I and Winter, RM and Bitner-Glindzicz, M (2001) Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet , 108 (5) 398 - 403.

Rickard, S. and Kelsell, D.P. and Sirimana, T. and Rajput, K. and MacArdle, B. and Bitner-Glindzicz, M. (2001) Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. Journal of Medical Genetics , 38 (8) pp. 530-533. 10.1136/jmg.38.8.530.

S

Sharp, A and Moore, and G, E (2001) Evidence for skewed X inactication for the involvement of trisomy 7 mosaicism in the aetiology of Silver-Russell syndrome. European Journal of Human Genetics , 9 (887) 891 - ?.

Stewart, VC and Heslegrave, AJ and Brown, GC and Clark, JB and Heales, SJR (2001) Glutamate receptor activation mediates nitric oxide dependent damage to neuronal mitochondria. J NEUROCHEM , 78 84 - 84.

T

Taylor, SJC and Whincup, PH and Hindmarsh, PC and Lampe, F and Odoki, K and Cook, DG (2001) Performance of a new pubertal self-assessment questionnaire: a preliminary study. PAEDIATR PERINAT EP , 15 (1) 88 - 94.

Thomas, PQ and Dattani, MT and Brickman, JM and McNay, D and Warne, G and Zacharin, M and Cameron, F and Hurst, J and Woods, K and Dunger, D and Stanhope, R and Forrest, S and Robinson, ICAF and Beddington, RSP (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics , 10 (1) 39 - 45.

Tyson, J and Kelberman, D and Brady, A and Garrett, C and Botma, M and Lim, J and Calvert, M and Gorlin, R and Malcolm, S and Winter, RM and Bitner-Glindzicz, M (2001) Hemifacial microsomia: Progress in understanding the genetic basis of a multifactorial condition. In: Journal of Medical Genetics. (pp. 371 - ?).

Tyson, J and Tranebjaerg, L and McEntagart, M and Larsen, LA and Christiansen, M and Whiteford, ML and Bathen, J and Aslaksen, B and Sorland, SJ and Lund, O and Pembrey, ME and Malcolm, S and Bitner-Glindzicz, M (2001) Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen (vol 107, pg 499, 2000). In: HUM GENET. (pp. 75 - 75). SPRINGER-VERLAG

W

Wang, ZJ and Jeffs, B and Ito, M and Achermann, JC and Yu, RN and Hales, DB and Jameson, JL (2001) Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. P NATL ACAD SCI USA , 98 (14) 7988 - 7993.

Wiltshire, E and Couper, J and Rodda, C and Jameson, JL and Achermann, JC (2001) Variable presentation of X-linked adrenal hypoplasia congenita. J PEDIATR ENDOCR MET , 14 (8) 1093 - 1096.

Witsch-Baumgartner, M and Ciara, E and Löffler, J and Menzel, HJ and Seedorf, U and Burn, J and Gillessen-Kaesbach, G and Hoffmann, GF and Fitzky, BU and Mundy, H and Clayton, P and Kelley, RI and Krajewska-Walasek, M and Utermann, G (2001) Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations. European Journal of Human Genetics , 9 (1) 45 - 50.

Z

Zeng, BY and Heales, SJR and Canevari, L and Jenner, P (2001) Dopamine D-1, D-2 and D-3 receptor binding density was not altered in tetrahydrobiopterin-deficient hph-1 mice. BRIT J PHARMACOL , 133 ? - ?.

This list was generated on Sun May 19 11:47:03 2013 BST.