C. Castellan

发表

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

C. Romano, R. Borgatti, R. Tenconi, 2001, Journal of medical genetics.

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

G. Morcaldi, D. Coviello, F. Stanzial, 2003 .

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

S. Gimelli, V. Kučinskas, O. Zuffardi, 2007, Journal of Medical Genetics.

Characterization of interstitial Xp duplications in two families by tiling path array CGH

Wei Chen, H. Ropers, A. Tzschach, 2008, American journal of medical genetics. Part A.

Parkin deletions in a family with adult‐onset, tremor‐dominant parkinsonism: Expanding the phenotype

X. Breakefield, P. Pramstaller, P. Vieregge, 2000, Annals of neurology.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Wei Li, R. Spritz, D. Bennett, 2002, Nature Genetics.

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

C. Angelini, A. Nascimbeni, F. Benedicenti, 2012, Clinical genetics.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

G. Comi, V. Tiranti, M. Zeviani, 2007, American journal of human genetics.

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

S. Schuffenhauer, K. Chrzanowska, G. Luleci, 2000, Journal of medical genetics.

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

A. Hanauer, K. Merienne, W. Kress, 1998, Journal of medical genetics.

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

L. Brečević, A. Schinzel, M. Riegel, 1999, American journal of medical genetics.

Isochromosome 18p Results from Maternal Meiosis II Nondisjunction

L. Brečević, A. Schinzel, D. Kotzot, 1996, European journal of human genetics : EJHG.

Trisomy 2p: analysis of unusual phenotypic findings.

A. Schinzel, C. Castellan, I. Lurie, 1995, American journal of medical genetics.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Bethan E. Hoskins, D. Cutler, R. Lewis, 2003, Human molecular genetics.

formationchromosomes. Clues to the mechanisms of are present in a proportion of ring Duplications in addition to terminal deletions

S. Perrotta, V. Kučinskas, A. Schinzel, 2007 .

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

A. Green, C. Fauth, C. Kim, 2013, The Journal of pediatrics.

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

J. Mendell, K. Bushby, M. Korner, 2003, Human mutation.

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.

R. Tenconi, M. Clementi, F. Benedicenti, 2003, American journal of medical genetics. Part A.

Clinical and genetic evaluation of a family with a mixed dystonia phenotype from south tyrol

X. Breakefield, P. Pramstaller, L. Ozelius, 1998, Annals of neurology.

[Genomics in medicine: challenges and perspectives for the nursing care].

M. Romanelli, C. Castellan, M. Regele, 2010, Assistenza infermieristica e ricerca : AIR.

Erratum: Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients

G. Morcaldi, D. Coviello, F. Stanzial, 2003 .