Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Tartaglia M, Mehler EL, Goldberg R et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001: 29: 465-468.
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Rivière JB, van Bon BW, Hoischen A et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012: 44: 440-444.
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
Di Donato N, Rump A, Koenig R et al. Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. Eur J Hum Genet 2014: 22: 179-183.
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Jul 23. [Epub ahead of print]
Verloes A, Di Donato N, Masliah-Planchon J et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet 2014 Jul 23. doi: 10.1038/ejhg.2014.95. [Epub ahead of print]
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Moller RS, Kubart S, Hoeltzenbein M et al. Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet 2008: 82: 1165-1170.
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
Yamamoto T, Shimojima K, Nishizawa T et al. Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. Am J Med Genet A 2010: 155A: 113-119.
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
Valetto A, Orsini A, Bertini V et al. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. Eur J Med Genet 2012: 55: 362-366.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Courcet JB, Faivre L, Malzac P et al. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet 2012: 49: 731-736.
Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome
Laguna A, Barallobre MJ, Marchena MÁ et al. Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. Hum Mol Genet 2013: 22: 2775-2784.
The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression
Windpassinger C, Kroisel PM, Wagner K et al. The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. Gene 2002: 292: 25-31.
Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping
Emberger W, Windpassinger C, Petek E et al. Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. Cytogenet Cell Genet 2000: 89: 281-282.
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
Rosenfeld JA, Crolla JA, Tomkins S et al. Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. Am J Med Genet A 2010: 152A: 1951-1959.
