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Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

Neurology, 2008-09, Vol.71 (10), p.774

2008

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A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma

Journal of cancer research and clinical oncology, 2016-04, Vol.142 (4), p.845-848

2016

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A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene

British journal of dermatology (1951), 2006-05, Vol.154 (5), p.992-994

2006

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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations

Acta anaesthesiologica Scandinavica, 2002-07, Vol.46 (6), p.692-698

2002

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Neurofibromatose Typ 1 und assoziierte Krankheiten bei 27 Kindern und Jugendlichen

Klinische Pädiatrie, 2007-11, Vol.219 (6), p.326-332

2007

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Limb defects and chorionic villus sampling: results from an international registry, 1992-94

The Lancet (British edition), 1996-02, Vol.347 (9000), p.489-494

1996

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Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome

Heart (British Cardiac Society), 2005-03, Vol.91 (3), p.383-384

2005

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A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis

Journal of the European Academy of Dermatology and Venereology, 2008-06, Vol.22 (6), p.750-751

2008

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Lotsensysteme und ihr Beitrag zur Chancengleichheit im Gesundheitswesen: Der Onkolotse der Sächsischen Krebsgesellschaft e. V

Forum (Heidelberg), 2017-09, Vol.32 (4), p.324-329

2017

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TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings

British journal of ophthalmology, 2009-07, Vol.93 (7), p.932-937

2009

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The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

British journal of cancer, 2009-10, Vol.101 (8), p.1456-1460

2009

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Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Annals of human genetics, 2008-01, Vol.72 (1), p.35-40

2008

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Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

British Journal of Anaesthesia, 2001-08, Vol.87 (2), p.240-245

2001

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Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes

Pediatric and developmental pathology, 2005-03, Vol.8 (2), p.197-203

2005

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Another case of autosomal dominant exstrophy of the bladder

Prenatal diagnosis, 2004-05, Vol.24 (5), p.375-377

2004

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Pre-eclampsia as a ‘Three Stage Problem’—A Workshop Report

Placenta, 2004-07, Vol.25 (6), p.585-587

2004

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Potential Errors with Rapid Analysis Techniques: Partial Duplication 21q Resulting from a Paternal Paracentric Insertion Uncovered in Chorionic Villus Sampling by Fluorescence in situ Hybridization

Fetal diagnosis and therapy, 2009-01, Vol.26 (4), p.219-222

2009

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8 DHPLC in Cystic Fibrosis diagnostics in the German population

Journal of cystic fibrosis, 2007, Vol.6, p.S2-S2

2007

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Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis

Klinische Pädiatrie, 2008-09, Vol.220 (5), p.318

2008

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Evaluation of the prenatal diagnosis of limb reduction deficiencies

Prenatal diagnosis, 2000-10, Vol.20 (10), p.811-818

2000

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Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

Clinical genetics, 2001-08, Vol.60 (2), p.117-124

2001

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Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

Cell, 1991-02, Vol.64 (4), p.861-866

1991

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Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

Human mutation, 2001-03, Vol.17 (3), p.238-238

2001

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Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography

Clinical genetics, 2003-04, Vol.63 (4), p.325-327

2003

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Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene

Clinical neuropathology, 2005-03, Vol.24 (2), p.77

2005

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Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma

A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene

Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations

Neurofibromatose Typ 1 und assoziierte Krankheiten bei 27 Kindern und Jugendlichen

Limb defects and chorionic villus sampling: results from an international registry, 1992-94

Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome

A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis

Lotsensysteme und ihr Beitrag zur Chancengleichheit im Gesundheitswesen: Der Onkolotse der Sächsischen Krebsgesellschaft e. V

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes

Another case of autosomal dominant exstrophy of the bladder

Pre-eclampsia as a ‘Three Stage Problem’—A Workshop Report

Potential Errors with Rapid Analysis Techniques: Partial Duplication 21q Resulting from a Paternal Paracentric Insertion Uncovered in Chorionic Villus Sampling by Fluorescence in situ Hybridization

8 DHPLC in Cystic Fibrosis diagnostics in the German population

Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis

Evaluation of the prenatal diagnosis of limb reduction deficiencies

Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia

Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography

Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene

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