Aicardi-Goutières syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunityCROW, Yanick J; REHWINKEL, Jan.Human molecular genetics (Print). 2009, Vol 18, issn 0964-6906, R130-R136, NS2Article

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

Autosomal Dominant Inheritance of a Heterozygous Mutation in SAMHD1 Causing Familial Chilblain LupusRAVENSCROFT, Jane C; SURI, Mohnish; RICE, Gillian I et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 1, pp 235-237, issn 1552-4825, 3 p.Article

New Subtype of Familial Intracranial Calcification in a Mother and Two ChildrenELSAID, Mahmoud F; CROW, Yanick J; LIVINGSTON, John H et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 943-946, issn 1552-4825, 4 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

Familial Aicardi―Goutières Syndrome Due to SAMHD1 Mutations Is Associated With Chronic Arthropathy and ContracturesDALE, Russell C; GORNALL, Hannah; SINGH-GREWAL, Davinder et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 938-942, issn 1552-4825, 5 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

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3BANKA, Siddharth; CHERVINSKY, Elena; NEWMAN, William G et al.European journal of human genetics. 2011, Vol 19, Num 1, pp 18-22, issn 1018-4813, 5 p.Article

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31PATTISON, Lisa; CROW, Yanick J; DEEBLE, V. Jayne et al.American journal of human genetics. 2000, Vol 67, Num 6, pp 1578-1580, issn 0002-9297Article

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54GREEN, Peter; WISEMAN, Matthew; JOSIFOVA, Dragana J et al.American journal of human genetics. 2010, Vol 86, Num 3, pp 485-489, issn 0002-9297, 5 p.Article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBUDDE, Birgit S; NAMAVAR, Yasmin; ARONICA, Eleonora et al.Nature genetics. 2008, Vol 40, Num 9, pp 1113-1118, issn 1061-4036, 6 p.Article

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause aicardi-goutières syndrome at the AGS1 locusCROW, Yanick J; HAYWARD, Bruce E; CORRY, Peter C et al.Nature genetics. 2006, Vol 38, Num 8, pp 917-920, issn 1061-4036, 4 p.Article

Clinical and mutational spectrum of mowat-wilson syndromeZWEIER, Christiane; THIEL, Christian T; BIER, Andrea et al.European journal of medical genetics. 2005, Vol 48, Num 2, pp 97-111, issn 1769-7212, 15 p.Article

Identification of microcephalin, a protein implicated in determining the size of the human brainJACKSON, Andrew P; EASTWOOD, Helen; KARBANI, Gulshan et al.American journal of human genetics. 2002, Vol 71, Num 1, pp 136-142, issn 0002-9297Article