Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.

Autor: Gazdagh GE; aWest of Scotland Regional Genetics Service, Laboratory Medicine Building bDepartment of Neurosurgery, Queen Elizabeth University Hospital cDepartment of Paediatric Radiology, Royal Hospital for Children, Glasgow, UK., Sangra M, Butler S, Whiteford ML

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2017 Oct; Vol. 26 (4), pp. 238-242.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Autor: Hood RL; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ontario, Canada., Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J, Majewski J, Bulman DE, White SM, Boycott KM

Publikováno v: American journal of human genetics [Am J Hum Genet] 2012 Feb 10; Vol. 90 (2), pp. 308-13. Date of Electronic Publication: 2012 Jan 19.

Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?

Autor: McWilliam CA; Ferguson Smith Centre for Clinical Genetics Combined Cleft Clinic, Yorkhill Hospital Regional Maxillofacial Unit, Southern General Hospital, Glasgow, UK., Devlin MF, Joss SK, Koppel DA, Longman C, Ray A, Whiteford ML

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2011 Apr; Vol. 20 (2), pp. 89-91.

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

Autor: Milunsky JM; Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118, USA. jmilunsk@bu.edu, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Jan; Vol. 155A (1), pp. 22-32.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Autor: Rice G; Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK., 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

Publikováno v: American journal of human genetics [Am J Hum Genet] 2007 Oct; Vol. 81 (4), pp. 713-25. Date of Electronic Publication: 2007 Sep 04.