Syndromes with lissencephaly.

Por Pilz, D T, Quarrell, O W
Publicado em 1996

Familial gonadal tumours.

Por Tischkowitz, M, Pilz, D, Harper, P S
Publicado em 1998

Mechanism of YadA-mediated serum resistance of Yersinia enterocolitica serotype O3.

Por Pilz, D, Vocke, T, Heesemann, J, Brade, V
Publicado em 1992

Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy?

Por Eccles, D, Barker, S, Pilz, D, Kennedy, C
Publicado em 2003

Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

Por Pilz, D, Quarrell, O W, Jones, E W
Publicado em 1994

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

Por Matsumoto, N, Pilz, D T, Fantes, J A, Kittikamron, K, Ledbetter, D H
Publicado em 1998

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Por Pilz, D T, Dalton, A, Long, A, Jaspan, T, Maltby, E L, Quarrell, O W
Publicado em 1995

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

Por Yue, Y, Stout, K, Grossmann, B, Zechner, U, Brinckmann, A, White, C, Pilz, D T, Haaf, T
Publicado em 2006

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase al...

Por Leeflang, E, Marsh, S, Parrini, E, Moro, F, Pilz, D, Dobyns, W, Guerrini, R, Wheless, J, Gleeson, J
Publicado em 2003

Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

Por Tyfield, L A, Stephenson, A, Cockburn, F, Harvie, A, Bidwell, J L, Wood, N A, Pilz, D T, Harper, P, Smith, I
Publicado em 1997

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

Por Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T, FitzPatrick, D, Gillerot, Y, Hughes, H, Pilz, D, Raymond, F, Temple, I, Irrthum, A, Schouten, J, Rahman, N
Publicado em 2005

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Por Piano Mortari, E., Folgiero, V., Marcellini, V., Romania, P., Bellacchio, E., D'Alicandro, V., Bocci, C., Carrozzo, R., Martinelli, D., Petrini, S., Axiotis, E., Farroni, C., Locatelli, F., Schara, U., Pilz, D.T., Jungbluth, H., Dionisi-Vici, C., Carsetti, R.
Publicado no Autophagy (2018)

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Por Archer, H L, Whatley, S D, Evans, J C, Ravine, D, Huppke, P, Kerr, A, Bunyan, D, Kerr, B, Sweeney, E, Davies, S J, Reardon, W, Horn, J, MacDermot, K D, Smith, R A, Magee, A, Donaldson, A, Crow, Y, Hermon, G, Miedzybrodzka, Z, Cooper, D N, Lazarou, L, Butler, R, Sampson, J, Pilz, D T, Laccone, F, Clarke, A J
Publicado em 2006