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The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Human molecular genetics, 1999-12, Vol.8 (13), p.2479-2488

1999

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The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Genetic counseling, 1999, Vol.10 (1), p.11

1999

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Holoprosencephaly: from Homer to Hedgehog

Clinical genetics, 1998-03, Vol.53 (3), p.155-163

1998

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Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar abnormalities

Neuroscience, 2002-01, Vol.114 (4), p.849-857

2002

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Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

Journal of medical genetics, 2005-01, Vol.42 (1), p.49-53

2005

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Fibroblast growth factor homologous factor 2 (FHF2) : gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

Human genetics, 1999-01, Vol.104 (1), p.56-63

1999

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Syndromes associated with immunodeficiency

Advances in pediatrics, 1999, Vol.46 (1), p.271-351

1999

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IL‐6 enhances the generation of cytolytic T lymphocytes in the allogeneic mixed leucocyte reaction

Clinical and experimental immunology, 1992-07, Vol.89 (1), p.148-153

1992

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Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

Human genetics, 2001-07, Vol.109 (1), p.1-6

2001

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Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly

American journal of human genetics, 2002-11, Vol.71 (5), p.1017-1032

2002

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Loss-of-Function Mutations in the Human GLI2 Gene Are Associated with Pituitary Anomalies and Holoprosencephaly-like Features

Proceedings of the National Academy of Sciences - PNAS, 2003-11, Vol.100 (23), p.13424-13429

2003

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Tourette's syndrome: Psychopathology in adolescents

Psychiatry and clinical neurosciences, 2004-08, Vol.58 (4), p.353-358

2004

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Distinctive features in the production of IL-6 by human T cells

Cellular immunology, 1990-10, Vol.130 (2), p.437-445

1990

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Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators

Diabetes (New York, N.Y.), 2000-04, Vol.49 (4), p.667-673

2000

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Immune abnormalities are a frequent manifestation of Kabuki syndrome

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.278-281

2005

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Interleukin 6 is the principal cytolytic T lymphocyte differentiation factor for thymocytes in human leukocyte conditioned medium

The Journal of molecular and cellular immunology : JMCI, 1989, Vol.4 (4), p.203

1989

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Skeletal anomalies and deformities in patients with deletions of 22q11

American journal of medical genetics, 1997-10, Vol.72 (2), p.210-215

1997

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Further delineation of Kabuki syndrome in 48 well-defined new individuals

American journal of medical genetics, 2005-01, Vol.132A (3), p.265-272

2005

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Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Diabetes (New York, N.Y.), 2000-04, Vol.49 (4), p.667

2000

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Autoimmune disorders in Kabuki syndrome

American journal of medical genetics, 2005-01, Vol.132A (3), p.260-262

2005

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Immunodeficiency as a component of recognizable syndromes

American journal of medical genetics, 1996-12, Vol.66 (4), p.378-398

1996

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SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature

American journal of medical genetics, 2001-07, Vol.102 (1), p.1-10

2001

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Human developmental disorders and the Sonic hedgehog pathway

Molecular medicine today (Regul. ed.), 1998-08, Vol.4 (8), p.343-349

1998

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Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome

American journal of medical genetics, 1997-12, Vol.73 (4), p.419-424

1997

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SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity

Human genetics, 2003-07, Vol.113 (2), p.170-177

2003

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The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Holoprosencephaly: from Homer to Hedgehog

Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar abnormalities

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

Fibroblast growth factor homologous factor 2 (FHF2) : gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

Syndromes associated with immunodeficiency

IL‐6 enhances the generation of cytolytic T lymphocytes in the allogeneic mixed leucocyte reaction

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly

Loss-of-Function Mutations in the Human GLI2 Gene Are Associated with Pituitary Anomalies and Holoprosencephaly-like Features

Tourette's syndrome: Psychopathology in adolescents

Distinctive features in the production of IL-6 by human T cells

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators

Immune abnormalities are a frequent manifestation of Kabuki syndrome

Interleukin 6 is the principal cytolytic T lymphocyte differentiation factor for thymocytes in human leukocyte conditioned medium

Skeletal anomalies and deformities in patients with deletions of 22q11

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Autoimmune disorders in Kabuki syndrome

Immunodeficiency as a component of recognizable syndromes

SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature

Human developmental disorders and the Sonic hedgehog pathway

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity

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