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Authors: Guntram Borck
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Journal Article

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations Free

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David Brenner and others
Brain, Volume 142, Issue 12, December 2019, Page e67, https://doi.org/10.1093/brain/awz306
Published: 15 October 2019
Journal Article

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling Free

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Marialetizia Motta and others
Human Molecular Genetics, Volume 28, Issue 6, 15 March 2019, Pages 1007–1022, https://doi.org/10.1093/hmg/ddy412
Published: 27 November 2018
Journal Article

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations Open Access

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Adriana Nunziata and others
Journal of the Endocrine Society, Volume 3, Issue 1, January 2019, Pages 27–41, https://doi.org/10.1210/js.2018-00123
Published: 17 September 2018
Journal Article

Hot-spot KIF5A mutations cause familial ALS Open Access

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David Brenner and others
Brain, Volume 141, Issue 3, March 2018, Pages 688–697, https://doi.org/10.1093/brain/awx370
Published: 12 January 2018
Journal Article

A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis Free

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Pola Smirin-Yosef and others
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 2, 1 February 2017, Pages 681–688, https://doi.org/10.1210/jc.2016-2714
Published: 14 December 2016
Journal Article

NEK1 mutations in familial amyotrophic lateral sclerosis Free

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David Brenner and others
Brain, Volume 139, Issue 5, May 2016, Page e28, https://doi.org/10.1093/brain/aww033
Published: 05 March 2016
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Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant Free

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Nicolai Marroquin and others
Brain, Volume 139, Issue 2, February 2016, Page e8, https://doi.org/10.1093/brain/awv218
Published: 11 September 2015
Journal Article

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells Open Access

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Eva L. Morozko and others
Human Molecular Genetics, Volume 24, Issue 3, 1 February 2015, Pages 609–624, https://doi.org/10.1093/hmg/ddu474
Published: 12 September 2014
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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood Open Access

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Joanne Ng and others
Brain, Volume 137, Issue 4, April 2014, Pages 1107–1119, https://doi.org/10.1093/brain/awu022
Published: 10 March 2014
Journal Article

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations Open Access

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Sally Tantawy and others
European Journal of Endocrinology, Volume 167, Issue 1, Jul 2012, Pages 125–130, https://doi.org/10.1530/EJE-11-0944
Published: 01 July 2012
Journal Article

Genetic Causes of Goiter and Deafness: Pendred Syndrome in a Girl and Cooccurrence of Pendred Syndrome and Resistance to Thyroid Hormone in Her Sister Get access

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Guntram Borck and others
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 6, 1 June 2009, Pages 2106–2109, https://doi.org/10.1210/jc.2008-2361
Published: 01 June 2009
Journal Article

Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes Get access

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Nicole Pfarr and others
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 7, 1 July 2006, Pages 2678–2681, https://doi.org/10.1210/jc.2006-0142
Published: 01 July 2006
Journal Article

Intrafamilial Variability of the Deafness and Goiter Phenotype in Pendred Syndrome Caused by a T416P Mutation in the SLC26A4 Gene Get access

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Ulrike Napiontek and others
The Journal of Clinical Endocrinology & Metabolism, Volume 89, Issue 11, 1 November 2004, Pages 5347–5351, https://doi.org/10.1210/jc.2004-1013
Published: 01 November 2004
Journal Article

Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect Get access

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Guntram Borck and others
The Journal of Clinical Endocrinology & Metabolism, Volume 89, Issue 8, 1 August 2004, Pages 4136–4141, https://doi.org/10.1210/jc.2004-0494
Published: 01 August 2004
Journal Article

Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation Get access

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Guntram Borck and others
The Journal of Clinical Endocrinology & Metabolism, Volume 88, Issue 6, 1 June 2003, Pages 2916–2921, https://doi.org/10.1210/jc.2002-021334
Published: 01 June 2003