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ATP8A2-related disorders as recessive cerebellar ataxia

Journal of neurology, 2020, Vol.267 (1), p.203-213

2020

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Neurofibromatosis type 1 and infantile spasms

Child's nervous system, 2009-02, Vol.25 (2), p.211-216

2009

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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Human genetics, 1996-12, Vol.98 (6), p.696-699

1996

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Reciprocal translocations : a trap for cytogenetists?

Human genetics, 2005-10, Vol.117 (6), p.571-582

2005

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A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

Neurogenetics, 2007, Vol.8 (1), p.57-60

2007

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Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

Human genetics, 2004-06, Vol.115 (1), p.69-80

2004

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CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes

Human genetics, 1999-10, Vol.105 (4), p.337-342

1999

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Clinical and genetic heterogeneity in Meckel syndrome

Human genetics, 1997-11, Vol.101 (1), p.88-92

1997

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Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

Human genetics, 1990-01, Vol.84 (2), p.116-118

1990

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Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus

Human genetics, 1997-08, Vol.100 (2), p.204-209

1997

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Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis

Child's nervous system, 1999-08, Vol.15 (8), p.389-394

1999

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Anesthesiologic problems in Williams syndrome : the CACNL2A locus is not involved

Human genetics, 1996-09, Vol.98 (3), p.317-320

1996

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D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

Human genetics, 1993-10, Vol.92 (4), p.391-396

1993

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The familial adenomatous polyposis region exhibits many different haplotypes

Human genetics, 1998-06, Vol.102 (6), p.624-628

1998

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Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17

Human genetics, 1991-05, Vol.87 (1), p.91-94

1991

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Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families

Human genetics, 1982-12, Vol.62 (2), p.117-120

1982

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Syndrome +12p. Case report and review

Human genetics, 1977-01, Vol.39 (1), p.97-101

1977

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ATP8A2-related disorders as recessive cerebellar ataxia

Neurofibromatosis type 1 and infantile spasms

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Reciprocal translocations : a trap for cytogenetists?

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4pl6

CD4 and CD8 T lymphocyte inheritance. Evidence for major autosomal recessive genes

Clinical and genetic heterogeneity in Meckel syndrome

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

Inheritance of cleft palate in Italy. Evidence for a major autosomal recessive locus

Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis

Anesthesiologic problems in Williams syndrome : the CACNL2A locus is not involved

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

The familial adenomatous polyposis region exhibits many different haplotypes

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17

Study on segregation of the inversion of chromosome 4 (p15.2q11) in two unrelated families

Syndrome +12p. Case report and review

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