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Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosumENGLISH, Sharon J; GAYATRI, Neti; ARTHUR, Rosemary et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 17, pp 1854-1858, issn 1552-4825, 5 p.Article

Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupusKOLIVRAS, Athanassios; AEBY, Alec; CROW, Yanick J et al.Journal of cutaneous pathology. 2008, Vol 35, Num 8, pp 774-778, issn 0303-6987, 5 p.Article

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndromeTAKANOHASHI, Asako; PRUST, Morgan; NAGARAJU, Kanneboyina et al.Neurology. 2013, Vol 80, Num 11, pp 997-1002, issn 0028-3878, 6 p.Article

A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi―Goutières SyndromeHAAXMA, Charlotte A; CROW, Yanick J; VAN STEENSEL, Maurice A. M et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2612-2617, issn 1552-4825, 6 p.Article

Mutations in the Pericentrin (PCNT) Gene Cause Primordial DwarfismRAUCH, Anita; THIEL, Christian T; ZWEIER, Christiane et al.Science (Washington, D.C.). 2008, Vol 319, Num 5864, pp 816-819, issn 0036-8075, 4 p.Article

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionCROW, Yanick J; LEITCH, Andrea; BAUMANN, Clarisse et al.Nature genetics. 2006, Vol 38, Num 8, pp 910-916, issn 1061-4036, 7 p.Article

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesDOUZGOU, Sofia; BREEN, Catherine; CROW, Yanick J et al.Archives of disease in childhood. 2012, Vol 97, Num 9, pp 812-817, issn 0003-9888, 6 p.Article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaALLALI, Slimane; LE GOFF, Carine; DROUIN-GARRAUD, Valéie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 417-421, issn 0022-2593, 5 p.Article

Newly Recognized Recessive Syndrome Characterized by Dysmorphic Features, Hypogonadotropic Hypogonadism, Severe Microcephaly, and Sensorineural Hearing Loss Maps to 3p21.3JENKINSON, Emma M; KINGSTON, Helen; URQUHART, Jill et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 2910-2915, issn 1552-4825, 6 p.Article

Severe Neonatal-Onset Panniculitis in a Female Infant With Prader―Willi SyndromeSAKTHIVEL, Muthukumar; HUGHES, Stephen M; RILEY, Phil et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3087-3089, issn 1552-4825, 3 p.Article

A C5b-9/Interferon-α―Mediated Endotheliopathy SyndromeMAGRO, Cynthia M; POE, Jonathan C; KIM, Connie et al.American journal of clinical pathology. 2011, Vol 135, Num 4, pp 599-610, issn 0002-9173, 12 p.Article

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumBANKA, Siddharth; VEERAMACHANENI, Ratna; METCALFE, Kay et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 381-388, issn 1018-4813, 8 p.Article

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant aicardi-goutières syndromeRICE, Gillian; NEWMAN, William G; HERRICK, Ariane L et al.American journal of human genetics. 2007, Vol 80, Num 4, pp 811-815, issn 0002-9297, 5 p.Article

ASPM is a major determinant of cerebral cortical sizeBOND, Jacquelyn; ROBERTS, Emma; WALSH, Christopher A et al.Nature genetics. 2002, Vol 32, Num 2, pp 316-320, issn 1061-4036, 5 p.Article

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase DeficiencyBANKA, Siddharth; BLOM, Henk J; WILL, Andrew et al.American journal of human genetics. 2011, Vol 88, Num 2, pp 216-225, issn 0002-9297, 10 p.Article

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signatureBRIGGS, Tracy A; RICE, Gillian I; BLACK, Graeme C. M et al.Nature genetics. 2011, Vol 43, Num 2, pp 127-131, issn 1061-4036, 5 p.Article

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolaseGOLDSTONE, David C; ENNIS-ADENIRAN, Valerie; DE CARVALHO, Luiz Pedro S et al.Nature (London). 2011, Vol 480, Num 7377, pp 379-382, issn 0028-0836, 4 p.Article

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and PolymicrogyriaO'DRISCOLL, Mary C; DALY, Sarah B; LADDA, Roger L et al.American journal of human genetics. 2010, Vol 87, Num 3, pp 354-364, issn 0002-9297, 11 p.Article

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2NEILSON, Derek E; ADAMS, Mark D; CLARKE, Antonia et al.American journal of human genetics. 2009, Vol 84, Num 1, pp 44-51, issn 0002-9297, 8 p.Article

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A region of homozygosity within 22q11.2 associated with congenital heart disease : recessive DiGeorge/velocardiofacial syndrome?HENWOOD, Judy; PICKARD, Chris; LENCH, Nicholas J et al.Journal of medical genetics. 2001, Vol 38, Num 8, pp 533-536, issn 0022-2593Article