PubMed

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A.

Eur J Med Genet. 2006 Jul-Aug;49(4):279-91. Epub 2005 Nov 7.PMID: 16829349 [PubMed - indexed for MEDLINE]Related articles

Kohlschutter syndrome in siblings.

Donnai D, Tomlin PI, Winter RM.

Clin Dysmorphol. 2005 Jul;14(3):123-6.PMID: 15930900 [PubMed - indexed for MEDLINE]Related articles

Diagnosis in dysmorphology: clues from the skin.

Smithson SF, Winter RM.

Br J Dermatol. 2004 Nov;151(5):953-60. Review.PMID: 15541072 [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

Familial syndromic duodenal atresia: Feingold syndrome.

Holder-Espinasse M, Ahmad Z, Hamill J, Pahari A, Misra D, Drake D, Winter RM, Wilson LC.

Eur J Pediatr Surg. 2004 Apr;14(2):112-6.PMID: 15185158 [PubMed - indexed for MEDLINE]Related articles

3D analysis of facial morphology.

Hammond P, Hutton TJ, Allanson JE, Campbell LE, Hennekam RC, Holden S, Patton MA, Shaw A, Temple IK, Trotter M, Murphy KC, Winter RM.

Am J Med Genet A. 2004 May 1;126A(4):339-48.PMID: 15098232 [PubMed - indexed for MEDLINE]Related articles

G protein-coupled receptor-dependent development of human frontal cortex.

Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA.

Science. 2004 Mar 26;303(5666):2033-6.PMID: 15044805 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM.

Neuropediatrics. 2003 Dec;34(6):287-92. Review.PMID: 14681753 [PubMed - indexed for MEDLINE]Related articles

Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?

Holder-Espinasse M, Winter RM.

Clin Dysmorphol. 2003 Oct;12(4):275.PMID: 14564218 [PubMed - indexed for MEDLINE]Related articles

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.

Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM.

Clin Dysmorphol. 2003 Oct;12(4):269-74.PMID: 14564217 [PubMed - indexed for MEDLINE]Related articles

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M.

Hum Mol Genet. 2003 Nov 1;12(21):2837-44. Epub 2003 Sep 2.PMID: 12952869 [PubMed - indexed for MEDLINE]Related articlesFree article

ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.

Bacchelli C, Wilson LC, Cook JA, Winter RM, Goodman FR.

Clin Genet. 2003 Sep;64(3):263-5. No abstract available. PMID: 12919145 [PubMed - indexed for MEDLINE]Related articles

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.

Wakeling EL, Dattani MT, Bloch-Zupan A, Winter RM, Holder SE.

Clin Dysmorphol. 2003 Apr;12(2):105-7.PMID: 12868472 [PubMed - indexed for MEDLINE]Related articles

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ.

Nat Genet. 2003 Jun;34(2):203-8.PMID: 12766769 [PubMed - indexed for MEDLINE]Related articles

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA.

Ann Neurol. 2003 May;53(5):596-606.PMID: 12730993 [PubMed - indexed for MEDLINE]Related articles

Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS).

Baralle D, Mattocks C, Kalidas K, Elmslie F, Whittaker J, Lees M, Ragge N, Patton MA, Winter RM, ffrench-Constant C.

Am J Med Genet A. 2003 May 15;119A(1):1-8.PMID: 12707950 [PubMed - indexed for MEDLINE]Related articles

Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.

Woodward K, Cundall M, Palmer R, Surtees R, Winter RM, Malcolm S.

Am J Med Genet A. 2003 Apr 1;118A(1):15-24.PMID: 12605435 [PubMed - indexed for MEDLINE]Related articles

Three craniosynostotic patients with tracheal sleeve.

Okajima K, Aoki I, Sagehashi N, Malcolm S, Winter RM.

Clin Dysmorphol. 2003 Jan;12(1):75.PMID: 12514372 [PubMed - indexed for MEDLINE]Related articles

Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case.

Suri M, Garrett C, Winter RM, Hall CM, Griffiths M.

Clin Dysmorphol. 2002 Oct;11(4):267-70.PMID: 12401992 [PubMed - indexed for MEDLINE]Related articles

Okihiro syndrome is caused by SALL4 mutations.

Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W.

Hum Mol Genet. 2002 Nov 1;11(23):2979-87.PMID: 12393809 [PubMed - indexed for MEDLINE]Related articlesFree article

Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance.

Hall CM, Elcioglu NH, MacDermot KD, Offiah AC, Winter RM.

J Med Genet. 2002 Sep;39(9):666-70. No abstract available. PMID: 12205110 [PubMed - indexed for MEDLINE]Related articlesFree article

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.

Am J Med Genet. 2002 Jun 15;110(2):153-7.PMID: 12116253 [PubMed - indexed for MEDLINE]Related articles

Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?

Brady AF, Winter RM, Wilson LC, Tatnall FM, Sheridan RJ, Garrett C.

Clin Dysmorphol. 2002 Jul;11(3):155-61.PMID: 12072792 [PubMed - indexed for MEDLINE]Related articles

Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate.

Prescott NJ, Winter RM, Malcolm S.

J Med Genet. 2002 May;39(5):368-9. No abstract available. PMID: 12011160 [PubMed - indexed for MEDLINE]Related articlesFree article

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

de Vries BB, Tyson J, Winter RM, Malcolm S.

Am J Med Genet. 2002 Apr 22;109(2):117-20.PMID: 11977159 [PubMed - indexed for MEDLINE]Related articles

Nonsyndromic cleft lip and palate: complex genetics and environmental effects.

Prescott NJ, Winter RM, Malcolm S.

Ann Hum Genet. 2001 Nov;65(Pt 6):505-15. Review.PMID: 11851981 [PubMed - indexed for MEDLINE]Related articles

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB.

Am J Hum Genet. 2002 Apr;70(4):1003-8. Epub 2002 Jan 29.PMID: 11822025 [PubMed - indexed for MEDLINE]Related articlesFree article

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcolm S, Singer SL, Winter RM, Bitner-Glindzicz M.

Hum Genet. 2001 Dec;109(6):638-45. Epub 2001 Oct 26.PMID: 11810276 [PubMed - indexed for MEDLINE]Related articles

Sponastrime dysplasia: presentation in infancy.

Offiah AC, Lees M, Winter RM, Hall CM.

J Med Genet. 2001 Dec;38(12):889-93. No abstract available. PMID: 11768397 [PubMed - indexed for MEDLINE]Related articlesFree article

PTEN mutations and proteus syndrome.

Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM.

Lancet. 2001 Dec 15;358(9298):2079-80. No abstract available. PMID: 11755639 [PubMed - indexed for MEDLINE]Related articles

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome.

Akrami SM, Winter RM, Brook JD, Armour JA.

J Med Genet. 2001 Dec;38(12):E44. No abstract available. PMID: 11748310 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.

Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR.

Hum Mol Genet. 2001 Nov 15;10(24):2797-802.PMID: 11734544 [PubMed - indexed for MEDLINE]Related articlesFree article

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C.

Lancet. 2001 Jul 21;358(9277):210-1.PMID: 11476841 [PubMed - indexed for MEDLINE]Related articles

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV.

J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6.PMID: 11443194 [PubMed - indexed for MEDLINE]Related articlesFree article

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M.

Hum Genet. 2001 May;108(5):398-403.PMID: 11409867 [PubMed - indexed for MEDLINE]Related articles

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM.

J Med Genet. 2001 Mar;38(3):175-8. No abstract available. PMID: 11303509 [PubMed - indexed for MEDLINE]Related articlesFree article

Cerebro-fronto-facial syndrome: three types?

Winter RM.

Clin Dysmorphol. 2001 Apr;10(2):79-80. No abstract available. PMID: 11311000 [PubMed - indexed for MEDLINE]Related articles

Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.

de Vries BB, van'tHoff WG, Surtees RA, Winter RM.

Clin Dysmorphol. 2001 Apr;10(2):115-21.PMID: 11310991 [PubMed - indexed for MEDLINE]Related articles

Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN.

Bacchelli C, Goodman FR, Scambler PJ, Winter RM.

Clin Genet. 2001 Mar;59(3):203-5. No abstract available. PMID: 11260233 [PubMed - indexed for MEDLINE]Related articles

The Online London Dysmorphology Database.

Guest SS, Evans CD, Winter RM.

Genet Med. 1999 Jul-Aug;1(5):207-12.PMID: 11256674 [PubMed - indexed for MEDLINE]Related articles

Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).

de Vries BB, Lees M, Knight SJ, Regan R, Corney D, Flint J, Barnicoat A, Winter RM.

Am J Med Genet. 2001 Apr 1;99(4):314-9.PMID: 11251999 [PubMed - indexed for MEDLINE]Related articles

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM.

J Med Genet. 2001 Mar;38(3):145-50.PMID: 11238680 [PubMed - indexed for MEDLINE]Related articlesFree article

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.

Robertson SP, Shears DJ, Oei P, Winter RM, Scambler PJ, Aftimos S, Savarirayan R.

J Med Genet. 2000 Dec;37(12):959-64. No abstract available. PMID: 11186941 [PubMed - indexed for MEDLINE]Related articlesFree article

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

de Vries BB, Bitner-Glindzicz M, Knight SJ, Tyson J, MacDermont KD, Flint J, Malcolm S, Winter RM.

Clin Genet. 2000 Dec;58(6):483-7.PMID: 11149619 [PubMed - indexed for MEDLINE]Related articles

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

Plomp AS, Reardon W, Benton S, Taylor D, Larcher VF, Sundrum R, Winter RM.

Clin Dysmorphol. 2000 Jul;9(3):189-92.PMID: 10955479 [PubMed - indexed for MEDLINE]Related articles

The KBG syndrome.

Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM.

Clin Dysmorphol. 2000 Apr;9(2):87-91. Review.PMID: 10826617 [PubMed - indexed for MEDLINE]Related articles

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

Hilhorst-Hofstee Y, Shah N, Atherton D, Harper JI, Milla P, Winter RM.

Clin Dysmorphol. 2000 Apr;9(2):79-85.PMID: 10826616 [PubMed - indexed for MEDLINE]Related articles

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs.

Prescott NJ, Lees MM, Winter RM, Malcolm S.

Hum Genet. 2000 Mar;106(3):345-50.PMID: 10798365 [PubMed - indexed for MEDLINE]Related articles

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T.

Am J Hum Genet. 2000 May;66(5):1504-15. Epub 2000 Apr 4. Erratum in: Am J Hum Genet 2000 Sep;67(3):769. PMID: 10749657 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

Plomp AS, Baraitser M, Slaney SF, Winter RM.

Clin Dysmorphol. 2000 Jan;9(1):11-4.PMID: 10649790 [PubMed - indexed for MEDLINE]Related articles