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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

Clinical genetics, 2005-01, Vol.67 (1), p.47-52

2005

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Two novel pathogenic variants in MED13L: one familial and one isolated case

Journal of intellectual disability research, 2021-12, Vol.65 (12), p.1049-1057

2021

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Cytogenetic and genome research, 2006-01, Vol.115 (3-4), p.254-261

2006

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The Y Chromosome of the Atelidae Family (Platyrrhini): Study by Chromosome Microdissection

Cytogenetic and genome research, 2009-01, Vol.125 (1), p.46-53

2009

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Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene

American journal of medical genetics, 2003-06, Vol.119A (2), p.180-183

2003

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Cytogenetic and genome research, 2006-01, Vol.114 (1), p.89-92

2006

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Rett Syndrome in a Boy with a 47,XXY Karyotype

American journal of human genetics, 1999-06, Vol.64 (6), p.1781-1784

1999

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Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

Clinical genetics, 1998-10, Vol.54 (4), p.303-308

1998

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A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

Clinical genetics, 2000-01, Vol.57 (1), p.86-87

2000

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Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

European journal of human genetics : EJHG, 2004-12, Vol.12 (12), p.987-992

2004

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Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

Genetics and molecular biology, 2002, Vol.25 (1), p.7-12

2002

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Chromosome aberrations in Sotos syndrome

Clinical genetics, 1991-12, Vol.40 (6), p.472-472

1991

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Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations

Epilepsia (Copenhagen), 2003-08, Vol.44 (8), p.1051-1063

2003

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Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

Human genetics, 1991-01, Vol.87 (1), p.106-107

1991

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Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation

Journal of medical genetics, 1990-07, Vol.27 (7), p.462-464

1990

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Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

American journal of medical genetics, 2000-09, Vol.94 (3), p.249-253

2000

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Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth

DNA and cell biology, 1993-04, Vol.12 (3), p.227-231

1993

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Cytogenetic and genome research, 2006-05, Vol.114 (1), p.89-92

2006

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Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report

Arquivos de neuro-psiquiatria, 1997-06, Vol.55 (2), p.329

1997

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Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?

Clinical neurophysiology, 2006-04, Vol.117 (4), p.803-809

2006

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Paternal UPD15: Further genetic and clinical studies in four Angelman syndrome patients

American journal of medical genetics, 2000-06, Vol.92 (5), p.322-327

2000

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Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

Epilepsy research, 2005-12, Vol.67 (3), p.163-168

2005

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Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13

Archives of neurology (Chicago), 2006-01, Vol.63 (1), p.122

2006

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The karyotype of Cacajao melanocephalus (Platyrrhini, Primates)

Folia primatologica, 1981-01, Vol.36 (1-2), p.150-154

1981

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.254

2006

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Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients

Two novel pathogenic variants in MED13L: one familial and one isolated case

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

The Y Chromosome of the Atelidae Family (Platyrrhini): Study by Chromosome Microdissection

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Rett Syndrome in a Boy with a 47,XXY Karyotype

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation

Chromosome aberrations in Sotos syndrome

Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation

Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

Cytogenetic evidence of involvement of chromosome regions 15q12 and 12q15 in conditions with associated overgrowth

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report

Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?

Paternal UPD15: Further genetic and clinical studies in four Angelman syndrome patients

Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13

The karyotype of Cacajao melanocephalus (Platyrrhini, Primates)

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

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