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Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry

Journal of neurology, 2011-05, Vol.258 (5), p.770-782

2011

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Unexpected island effects at an extreme: reduced Y chromosome and mitochondrial DNA diversity in Nias

Molecular biology and evolution, 2011-04, Vol.28 (4), p.1349-1361

2011

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Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases

Neuropediatrics, 2010-08, Vol.41 (2), p.60-65

2010

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Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome

Human reproduction (Oxford), 2005-05, Vol.20 (5), p.1248-1255

2005

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Familial aggregation of strong hemispheric language lateralization

Neurology, 2004-12, Vol.63 (12), p.2433-2435

2004

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P34. Working memory for faces in congenital prosopagnosia: altered neural representations in the fusiform face area

Clinical neurophysiology, 2018-08, Vol.129 (8), p.e80-e81

2018

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Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability

Human molecular genetics, 1995-07, Vol.4 (7), p.1147-1153

1995

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PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations

Molecular biology and evolution, 2004-11, Vol.21 (11), p.2005-2011

2004

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Histopathological evaluation of thrombus in patients presenting with stent thrombosis. A multicenter European study: a report of the prevention of late stent thrombosis by an interdisciplinary global European effort consortium

European heart journal, 2016-05, Vol.37 (19), p.1538-1549

2016

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"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

Journal of medical genetics, 1997-08, Vol.34 (8), p.676-678

1997

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A cryptic insertion (17;15) on both chromosomes 17 with lack of PML-RARA expression in a case of atypical acute promyelocytic leukemia

Leukemia, 2004-01, Vol.18 (1), p.183-186

2004

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Hereditary Prosopagnosia: the First Case Series

Cortex, 2007, Vol.43 (6), p.734-749

2007

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Characterization of a novel protein kinase C response element in the glucagon gene

Molecular and Cellular Biology, 1997-04, Vol.17 (4), p.1805-1816

1997

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Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans

Frontiers in bioscience, 2008-01, Vol.13 (13), p.3150

2008

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Hereditary prosopagnosia

Neuropediatrics, 2011, Vol.42 (S 01)

2011

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Prader-Willi syndrome and Sotos syndrome

Clinical genetics, 1989-03, Vol.35 (3), p.228-229

Kennerknecht, I.

1989

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A case of apparent trisomy 21 without the Down's syndrome phenotype

Journal of medical genetics, 1997-07, Vol.34 (7), p.597-600

1997

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Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; trisomy 16; and trisomy 18

Prenatal diagnosis, 1990-08, Vol.10 (8), p.539-544

1990

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Introduction of early amniocentesis to routine prenatal diagnosis

Prenatal diagnosis, 1992-08, Vol.12 (8), p.661-669

1992

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DIDMOAD (Wolfram) syndrome

British journal of psychiatry, 1994-01, Vol.164 (1), p.132-132

1994

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First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis

Prenatal diagnosis, 1992-07, Vol.12 (7), p.595-601

1992

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The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32

Human genetics, 1990-12, Vol.86 (2), p.238-240

1990

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Uncommon chromosomal mosaicism in chorionic villi

Prenatal diagnosis, 1991-08, Vol.11 (8), p.569-575

1991

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Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

Human genetics, 1993-11, Vol.92 (5), p.491-498

1993

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Proliferation kinetics in native chorionic villus cells

Prenatal diagnosis, 1991-08, Vol.11 (8), p.591-595

1991

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Congenital prosopagnosia: multistage anatomical and functional deficits in face processing circuitry

Unexpected island effects at an extreme: reduced Y chromosome and mitochondrial DNA diversity in Nias

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases

Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome

Familial aggregation of strong hemispheric language lateralization

P34. Working memory for faces in congenital prosopagnosia: altered neural representations in the fusiform face area

Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability

PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations

Histopathological evaluation of thrombus in patients presenting with stent thrombosis. A multicenter European study: a report of the prevention of late stent thrombosis by an interdisciplinary global European effort consortium

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

A cryptic insertion (17;15) on both chromosomes 17 with lack of PML-RARA expression in a case of atypical acute promyelocytic leukemia

Hereditary Prosopagnosia: the First Case Series

Characterization of a novel protein kinase C response element in the glucagon gene

Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans

Hereditary prosopagnosia

Prader-Willi syndrome and Sotos syndrome

A case of apparent trisomy 21 without the Down's syndrome phenotype

Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; trisomy 16; and trisomy 18

Introduction of early amniocentesis to routine prenatal diagnosis

DIDMOAD (Wolfram) syndrome

First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis

The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32

Uncommon chromosomal mosaicism in chorionic villi

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

Proliferation kinetics in native chorionic villus cells

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