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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Journal of medical genetics, 2006-10, Vol.43 (10), p.822-828

2006

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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Journal of medical genetics, 2007-12, Vol.44 (12), p.750-762

2007

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

European journal of medical genetics, 2023-07, Vol.66 (7), p.104773-104773, Article 104773

2023

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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Clinical genetics, 2018-03, Vol.93 (3), p.545-556

2018

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Journal of medical genetics, 2008-06, Vol.45 (6), p.346-354

2008

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Journal of medical genetics, 2004-06, Vol.41 (6), p.433-439

2004

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Renforcer le secteur privé dans les pays en développement: L'expérience des pays du Mékong

Bonaglia, Federico

1, 2006

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Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome

European journal of medical genetics, 2023-05, Vol.66 (5), p.104736-104736, Article 104736

2023

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Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

Journal of medical genetics, 2003-07, Vol.40 (7), p.526-530

2003

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Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

Journal of child neurology, 2017-01, Vol.32 (1), p.60-71

2017

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Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy

Science translational medicine, 2012-12, Vol.4 (165), p.165ra162

2012

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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Seizure (London, England), 2021-05, Vol.88, p.60-72

2021

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Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

American journal of human genetics, 2001-08, Vol.69 (2), p.261-268

2001

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Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions

European journal of human genetics : EJHG, 2010-12, Vol.18 (12), p.1302-1309

2010

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The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2006-02, Vol.142C (1), p.8-12

2006

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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia

Journal of medical genetics, 2004-06, Vol.41 (6), p.e71-e71

2004

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Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

Human genetics, 2010-12, Vol.128 (6), p.577-588

2010

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novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

Human mutation, 2009-07, Vol.30 (7), p.1104-1116

2009

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Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

Journal of medical genetics, 2006-05, Vol.43 (5), p.e19-e19

2006

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P3.15 A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.686-686

2011

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Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

Circulation (New York, N.Y.), 2000-07, Vol.102 (4), p.432-437

2000

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Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

Neuromuscular disorders : NMD, 2003-12, Vol.13 (10), p.788-795

2003

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Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

Journal of medical genetics, 2003-08, Vol.40 (8), p.e94-94

2003

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The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

American journal of human genetics, 1996-04, Vol.58 (4), p.785-796

1996

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De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

American journal of medical genetics, 2003-03, Vol.117A (3), p.207-211

2003

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Renforcer le secteur privé dans les pays en développement: L'expérience des pays du Mékong

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

P3.15 A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

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