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Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity

Scientific reports, 2020-04, Vol.10 (1), p.6064, Article 6064

2020

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Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex

PloS one, 2015-05, Vol.10 (5), p.e0127671-e0127671

2015

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Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

Hormone research in paediatrics, 2020, Vol.93 (1), p.16-29

2020

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Protect minorities in genetic research

Science (American Association for the Advancement of Science), 2021-09, Vol.373 (6562), p.1452-1452

2021

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Europe's Roma people are vulnerable to poor practice in genetics

Nature (London), 2021-11, Vol.599 (7885), p.368-371

2021

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10 Years of International Albinism Awareness: United Nations celebrate an anniversary and a decade of collective progress, but challenges remain

Medizinische Genetik, 2024-09, Vol.36 (3), p.217-218

Rappold, Gudrun A.

2024

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Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Genes, 2020-08, Vol.11 (9), p.1021

2020

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Identification of novel SHOX target genes in the developing limb using a transgenic mouse model

PloS one, 2014-06, Vol.9 (6), p.e98543-e98543

2014

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Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome

Proceedings of the National Academy of Sciences - PNAS, 2022-02, Vol.119 (8)

2022

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The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation

Proceedings of the National Academy of Sciences - PNAS, 2002-09, Vol.99 (18), p.11754-11759

2002

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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Nature genetics, 1997-05, Vol.16 (1), p.54-63

1997

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Representing vulnerable populations in genetic studies: The case of the Roma

Science in context, 2021-03, Vol.34 (1), p.69-100

2021

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Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids

PloS one, 2009-04, Vol.4 (4), p.e5288-e5288

2009

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Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

Molecular psychiatry, 2021-11, Vol.26 (11), p.6505-6505

2021

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Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature

The journal of clinical endocrinology and metabolism, 2002-03, Vol.87 (3), p.1402-1406

2002

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10 Years of International Albinism Awareness

Medizinische Genetik, 2024-09, Vol.36 (3), p.217-218

Rappold, Gudrun A.

2024

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App aims to offer resources to people with albinism

Nature Africa, 2023-07

Rappold, Gudrun A

2023

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Une application pour aider les personnes atteintes d'albinisme

Nature Africa, 2023-07

Rappold, Gudrun A

2023

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SHOT, a SHOX-Related Homeobox Gene, is Implicated in Craniofacial, Brain, Heart, and Limb Development

Proceedings of the National Academy of Sciences - PNAS, 1998-03, Vol.95 (5), p.2406-2411

1998

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Heterogenität SHANK2-bedingter neuropsychiatrischer Störungen

Biospektrum, 2020-02, Vol.26 (1), p.11-15

2020

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Wenn die Intelligenz beeinträchtigt ist

Heidelberger Jahrbücher Online., 2022-10, Vol.6 (1)

Gudrun A. Rappold

2022

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Retinoic acid catabolizing enzyme CYP 26C1 is a genetic modifier in SHOX deficiency

EMBO molecular medicine, 2016-12, Vol.8 (12), p.1455-1469

2016

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Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

Nature (London), 1985-10, Vol.317 (6039), p.687-692

1985

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Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) GeneDeficiency and Turner Syndrome before and after 2 Years of GH Treatment

Hormone research in paediatrics, 2015-08, Vol.84 (1), p.14-25

2015

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Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity

Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex

Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism

Protect minorities in genetic research

Europe's Roma people are vulnerable to poor practice in genetics

10 Years of International Albinism Awareness: United Nations celebrate an anniversary and a decade of collective progress, but challenges remain

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Identification of novel SHOX target genes in the developing limb using a transgenic mouse model

Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome

The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Representing vulnerable populations in genetic studies: The case of the Roma

Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids

Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders

miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome

Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature

10 Years of International Albinism Awareness

App aims to offer resources to people with albinism

Une application pour aider les personnes atteintes d'albinisme

SHOT, a SHOX-Related Homeobox Gene, is Implicated in Craniofacial, Brain, Heart, and Limb Development

Heterogenität SHANK2-bedingter neuropsychiatrischer Störungen

Wenn die Intelligenz beeinträchtigt ist

Retinoic acid catabolizing enzyme CYP 26C1 is a genetic modifier in SHOX deficiency

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) GeneDeficiency and Turner Syndrome before and after 2 Years of GH Treatment

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