Clinical diagnostic tests

Citations 1-10 of 291 total displayed.

Original articles
High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

M Tyreman, K M Abbott, L R Willatt, R Nash, C Lees, J Whittaker, I Simonic
J. Med. Genet. 2009 46: 531 -541; published online before print as 10.1136/jmg.2008.065482 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendicies ]  

Letters to JMG
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

D A Muzykewicz, A Sharma, V Muse, A L Numis, J Rajagopal, E A Thiele
J. Med. Genet. 2009 46: 465 -468; published online before print as 10.1136/jmg.2008.065342 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

T Y Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian, A Slavotinek, J Hogue, J B Moeschler, J Ozmore, R Widmer, R Savarirayan, G Peters
J. Med. Genet. 2009 46: 480 -489; published online before print as 10.1136/jmg.2008.065391 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

D T Miller, Y Shen, L A Weiss, J Korn, I Anselm, C Bridgemohan, G F Cox, H Dickinson, J Gentile, D J Harris, V Hegde, R Hundley, O Khwaja, S Kothare, C Luedke, R Nasir, A Poduri, K Prasad, P Raffalli, A Reinhard, S E Smith, M M Sobeih, J S Soul, J Stoler, M Takeoka, W-H Tan, J Thakuria, R Wolff, R Yusupov, J F Gusella, M J Daly, B-L Wu
J. Med. Genet. 2009 46: 242 -248; published online before print as 10.1136/jmg.2008.059907 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]  

Mutation reports
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

R A Maselli, J J Ng, J A Anderson, O Cagney, J Arredondo, C Williams, H B Wessel, H Abdel-Hamid, R L Wollmann
J. Med. Genet. 2009; 46: 203-208. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Fünsterer, V-F Mautner
J. Med. Genet. 2009 46: 81 -85; published online before print as 10.1136/jmg.2008.061051 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

M J Lyons, J M Graham, Jr, G Neri, A G W Hunter, R D Clark, R C Rogers, M Moscarda, L Boccuto, R Simensen, J Dodd, S Robertson, B R DuPont, M J Friez, C E Schwartz, R E Stevenson
J. Med. Genet. 2009 46: 9 -13; published online before print as 10.1136/jmg.2008.060509 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

D Araújo-Vilar, G Lattanzi, B González-Méndez, A T Costa-Freitas, D Prieto, M Columbaro, E Mattioli, B Victoria, N Martínez-Sánchez, A Ramazanova, M Fraga, A Beiras, J Forteza, L Domínguez-Gerpe, C Calvo, J Lado-Abeal
J. Med. Genet. 2009 46: 40 -48; published online before print as 10.1136/jmg.2008.059485 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation

R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, H J M Smeets
J. Med. Genet. 2008 45: 525 -534; published online before print as 10.1136/jmg.2008.057497 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma

L J Worrillow, A G Smith, K Scott, M Andersson, A J Ashcroft, G M Dores, B Glimelius, E Holowaty, G H Jackson, G L Jones, C F Lynch, G Morgan, E Pukkala, D Scott, H H Storm, P R Taylor, M Vyberg, E Willett, L B Travis, J M Allan
J. Med. Genet. 2008 45: 142 -146; published online before print as 10.1136/jmg.2007.053850 [Abstract] [Full text] [PDF] [Request Permissions]