Endocrinology

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Hao Yang, Walla Al-Hertani, Denis Cyr, Rachel Laframboise, Guy Parizeault, Shu Pei Wang, Francis Rossignol, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell

Journal of Medical Genetics Apr 2017, 54 (4) 241-247; DOI: 10.1136/jmedgenet-2016-104289
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Yifat Zivony-Elboum, Wendy Westbroek, Nehama Kfir, David Savitzki, Yishay Shoval, Assnat Bloom, Raya Rod, Morad Khayat, Bella Gross, Walid Samri, Hector Cohen, Vadim Sonkin, Tatiana Freidman, Dan Geiger, Aviva Fattal-Valevski, Yair Anikster, Aoife M Waters, Robert Kleta, Tzipora C Falik-Zaccai

Journal of Medical Genetics Jul 2012, 49 (7) 462-472; DOI: 10.1136/jmedgenet-2012-100742
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
Nelly Sabbaghian, Nancy Hamel, Archana Srivastava, Steffen Albrecht, John R Priest, William D Foulkes

Journal of Medical Genetics Jul 2012, 49 (7) 417-419; DOI: 10.1136/jmedgenet-2012-100898
Duplication of medial 15q confirmed by FISH
C E BROWNE, E HATCHWELL, A PROTOPAPOS, J RAMOS

Journal of Medical Genetics Aug 2000, 37 (8) e10; DOI: 10.1136/jmg.37.8.e10
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman, Morad Khayat, Verónica Eisner, Eugene Vladovski, Robert W Taylor, Laurence A Bindoff, Avraham Shaag, Hanna Mandel, Ora Schuler-Furman, Stavit A Shalev, Orly Elpeleg, Patrick Yu-Wai-Man

Journal of Medical Genetics Feb 2016, 53 (2) 127-131; DOI: 10.1136/jmedgenet-2015-103361
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
Zuhair N Al-Hassnan, Mazhor Al-Dosary, Majid Alfadhel, Eissa A Faqeih, Maysoon Alsagob, Rosan Kenana, Rawan Almass, Olfat S Al-Harazi, Hindi Al-Hindi, Omhani I Malibari, Faten B Almutari, Sahar Tulbah, Faten Alhadeq, Tarfa Al-Sheddi, Rana Alamro, Ali AlAsmari, Makki Almuntashri, Hesham Alshaalan, Futwan A Al-Mohanna, Dilek Colak, Namik Kaya

Journal of Medical Genetics Mar 2015, 52 (3) 186-194; DOI: 10.1136/jmedgenet-2014-102592
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

Journal of Medical Genetics Feb 2015, 52 (2) 104-110; DOI: 10.1136/jmedgenet-2014-102677
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, Michaela Jaksch

Journal of Medical Genetics Sep 2000, 37 (9) 669-673; DOI: 10.1136/jmg.37.9.669
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation
Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, Patrick F Chinnery

Journal of Medical Genetics Jan 2007, 44 (1) 69-74; DOI: 10.1136/jmg.2006.043109
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilcox

Journal of Medical Genetics May 2015, 52 (5) 353-358; DOI: 10.1136/jmedgenet-2014-102797

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