PubMed

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

Crow YJ, Rehwinkel J.

Hum Mol Genet. 2009 Oct 15;18(R2):R130-6.PMID: 19808788 [PubMed - in process]Related articles

Aicardi-Goutières syndrome presenting with haematemesis in infancy.

Hall D, Rice G, Akbar N, Meager A, Crow Y, Lim M.

Acta Paediatr. 2009 Sep 22. [Epub ahead of print]PMID: 19775308 [PubMed - as supplied by publisher]Related articles

Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus.

Prendiville JS, Crow YJ.

J Am Acad Dermatol. 2009 Oct;61(4):727-8. No abstract available. PMID: 19751886 [PubMed - indexed for MEDLINE]Related articles

Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome.

Wassmer E, Singh J, Agrawal S, Santra S, Crow YJ.

Dev Med Child Neurol. 2009 Oct;51(10):841-2. Epub 2009 Aug 18. No abstract available. PMID: 19694776 [PubMed - indexed for MEDLINE]Related articles

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.

Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E.

AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6. Epub 2009 Jul 23.PMID: 19628626 [PubMed - in process]Related articles

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ.

Nat Genet. 2009 Jul;41(7):829-32. Epub 2009 Jun 14.PMID: 19525956 [PubMed - indexed for MEDLINE]Related articles

3C syndrome.

Craft E, Wildig CE, Crow YJ.

Am J Med Genet A. 2009 Jun 5. [Epub ahead of print] No abstract available. PMID: 19504608 [PubMed - as supplied by publisher]Related articles

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.

Hum Mutat. 2009 Mar;30(3):E530-40.PMID: 19177532 [PubMed - indexed for MEDLINE]Related articles

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML.

Am J Hum Genet. 2009 Jan;84(1):44-51.PMID: 19118815 [PubMed - indexed for MEDLINE]Related articlesFree article

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ.

Am J Med Genet A. 2008 Dec 15;146A(24):3173-80.PMID: 19012351 [PubMed - indexed for MEDLINE]Related articles

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Navarro V, Scott C, Briggs TA, Barete S, Frances C, Lebon P, Maisonobe T, Rice GI, Wouters CH, Crow YJ.

Am J Med Genet A. 2008 Nov 1;146A(21):2810-5.PMID: 18924170 [PubMed - indexed for MEDLINE]Related articles

The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection.

Jepps H, Seal S, Hattingh L, Crow YJ.

Early Hum Dev. 2008 Dec;84(12):783-5. Epub 2008 Oct 1. Review.PMID: 18829186 [PubMed - indexed for MEDLINE]Related articles

Aicardi-Goutières syndrome: description of a late onset case.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Lebon P, Rice G, Crow YJ, Pantaleoni C.

Dev Med Child Neurol. 2008 Aug;50(8):631-4.PMID: 18754903 [PubMed - indexed for MEDLINE]Related articles

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

Nat Genet. 2008 Sep;40(9):1113-8.PMID: 18711368 [PubMed - indexed for MEDLINE]Related articles

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V.

Nat Genet. 2008 Sep;40(9):1119-23.PMID: 18677313 [PubMed - indexed for MEDLINE]Related articlesFree article

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.

Neuropediatrics. 2007 Dec;38(6):313-6.PMID: 18461509 [PubMed - indexed for MEDLINE]Related articles

Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus.

Kolivras A, Aeby A, Crow YJ, Rice GI, Sass U, André J.

J Cutan Pathol. 2008 Aug;35(8):774-8. Epub 2008 Apr 17.PMID: 18422690 [PubMed - indexed for MEDLINE]Related articles

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.

Crow YJ, Livingston JH.

Dev Med Child Neurol. 2008 Jun;50(6):410-6. Epub 2008 Apr 14. Review.PMID: 18422679 [PubMed - indexed for MEDLINE]Related articles

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. Epub 2008 Jan 3.PMID: 18174396 [PubMed - indexed for MEDLINE]Related articlesFree article

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ.

Am J Med Genet A. 2008 Jan 15;146A(2):182-90.PMID: 18076099 [PubMed - indexed for MEDLINE]Related articles

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Orcesi S, Pessagno A, Biancheri R, La Piana R, Mascaretti M, Rossi A, Rice GI, Crow YJ, Fazzi E, Veneselli E.

Eur J Paediatr Neurol. 2008 Sep;12(5):408-11. Epub 2008 Feb 20.PMID: 18069026 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.PMID: 17846997 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ.

Am J Hum Genet. 2007 Apr;80(4):811-5. Epub 2007 Feb 19.PMID: 17357087 [PubMed - indexed for MEDLINE]Related articlesFree article

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.

Fisher RB, Pairaudeau PW, Innes JR, Bartlett RJ, Crow YJ.

Clin Dysmorphol. 2007 Jan;16(1):59-61.PMID: 17159518 [PubMed - indexed for MEDLINE]Related articles

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K.

Neurology. 2006 Nov 14;67(9):1710-2. Erratum in: Neurology. 2007 Feb 27;68(9):711. PMID: 17101916 [PubMed - indexed for MEDLINE]Related articles

Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum.

English SJ, Gayatri N, Arthur R, Crow YJ.

Am J Med Genet A. 2006 Sep 1;140A(17):1854-8.PMID: 16892303 [PubMed - indexed for MEDLINE]Related articles

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martínez-Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP.

Nat Genet. 2006 Aug;38(8):910-6. Epub 2006 Jul 16.PMID: 16845400 [PubMed - indexed for MEDLINE]Related articles

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T.

Nat Genet. 2006 Aug;38(8):917-20. Epub 2006 Jul 16.PMID: 16845398 [PubMed - indexed for MEDLINE]Related articles

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR.

Am J Med Genet A. 2006 Jun 1;140(11):1131-5.PMID: 16691627 [PubMed - indexed for MEDLINE]Related articles

Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.

Dipti S, Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ.

Brain Dev. 2005 Sep;27(6):443-6. Epub 2004 Dec 15.PMID: 16122634 [PubMed - indexed for MEDLINE]Related articles

Chromosome 1q42 deletion and agenesis of the corpus callosum.

Puthuran MJ, Rowland-Hill CA, Simpson J, Pairaudeau PW, Mabbott JL, Morris SM, Crow YJ.

Am J Med Genet A. 2005 Sep 15;138(1):68-9. No abstract available. PMID: 16097003 [PubMed - indexed for MEDLINE]Related articles

Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome.

Crow YJ.

Am J Med Genet A. 2005 Aug 30;137(2):233; author reply 234. No abstract available. PMID: 16059946 [PubMed - indexed for MEDLINE]Related articles

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.PMID: 16053902 [PubMed - indexed for MEDLINE]Related articles

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, van Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ.

J Med Genet. 2006 May;43(5):444-50. Epub 2005 May 20.PMID: 15908569 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic syndromes mimic congenital infections.

Sanchis A, Cerveró L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martínez-Frías ML.

J Pediatr. 2005 May;146(5):701-5.PMID: 15870678 [PubMed - indexed for MEDLINE]Related articles

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder.

Kirby D, Jackson AP, Karbani G, Crow YJ.

Clin Genet. 2005 May;67(5):448-9. No abstract available. PMID: 15811017 [PubMed - indexed for MEDLINE]Related articles

Natural history of cardiac involvement in geleophysic dysplasia.

Scott A, Yeung S, Dickinson DF, Karbani G, Crow YJ.

Am J Med Genet A. 2005 Jan 30;132A(3):320-3. Review.PMID: 15690380 [PubMed - indexed for MEDLINE]Related articles

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Crow YJ, Massey RF, Innes JR, Pairaudeau PW, Rowland Hill CA, Woods CG, Ali M, Livingston JH, Lebon P, Nischall K, McEntagart M, Hindocha N, Winter RM.

Am J Med Genet A. 2004 Sep 1;129A(3):303-7.PMID: 15326633 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.

Borozdin W, Wright MJ, Hennekam RC, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J.

J Med Genet. 2004 Aug;41(8):e102. No abstract available. PMID: 15286162 [PubMed - indexed for MEDLINE]Related articlesFree article

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB.

Neuropediatrics. 2004 Feb;35(1):10-9.PMID: 15002047 [PubMed - indexed for MEDLINE]Related articles

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Crow YJ, Black DN, Ali M, Bond J, Jackson AP, Lefson M, Michaud J, Roberts E, Stephenson JB, Woods CG, Lebon P.

J Med Genet. 2003 Mar;40(3):183-7.PMID: 12624136 [PubMed - indexed for MEDLINE]Related articlesFree article

ASPM is a major determinant of cerebral cortical size.

Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG.

Nat Genet. 2002 Oct;32(2):316-20. Epub 2002 Sep 23.PMID: 12355089 [PubMed - indexed for MEDLINE]Related articles

Identification of microcephalin, a protein implicated in determining the size of the human brain.

Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG.

Am J Hum Genet. 2002 Jul;71(1):136-42. Epub 2002 Jun 3.PMID: 12046007 [PubMed - indexed for MEDLINE]Related articlesFree article

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Henwood J, Pickard C, Leek JP, Bennett CP, Crow YJ, Thompson JD, Ahmed M, Watterson KG, Parsons JM, Roberts E, Lench NJ.

J Med Genet. 2001 Aug;38(8):533-6. No abstract available. PMID: 11494964 [PubMed - indexed for MEDLINE]Related articlesFree article

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG.

Am J Hum Genet. 2000 Dec;67(6):1578-80. Epub 2000 Nov 7.PMID: 11078481 [PubMed - indexed for MEDLINE]Related articlesFree article

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG.

Am J Hum Genet. 2000 Jul;67(1):213-21. Epub 2000 May 25.PMID: 10827106 [PubMed - indexed for MEDLINE]Related articlesFree article

The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.

Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM.

Mol Genet Metab. 1999 Apr;66(4):245-7.PMID: 10191109 [PubMed - indexed for MEDLINE]Related articles

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

Munroe PB, Greene ND, Leung KY, Mole SE, Gardiner RM, Mitchison HM, Stephenson JB, Crow YJ.

J Med Genet. 1998 Sep;35(9):790. No abstract available. PMID: 9733046 [PubMed - indexed for MEDLINE]Related articlesFree article

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM.

J Med Genet. 1998 Mar;35(3):225-33.PMID: 9541108 [PubMed - indexed for MEDLINE]Related articlesFree article

Recurrence risks in mental retardation.

Crow YJ, Tolmie JL.

J Med Genet. 1998 Mar;35(3):177-82. Review.PMID: 9541099 [PubMed - indexed for MEDLINE]Related articlesFree article