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Copy Number Variations in Adult-onset Neuropsychiatric Diseases

Current genomics, 2018-09, Vol.19 (6), p.420-430

2018

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CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

Clinical genetics, 2006-09, Vol.70 (3), p.246-249

2006

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Hailey–Hailey disease from a clinical perspective

Cell calcium (Edinburgh), 2008-02, Vol.43 (2), p.105-106

Kellermayer, Richard

2008

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The versatile RECQL4

Genetics in medicine, 2006-04, Vol.8 (4), p.213-216

Kellermayer, Richard

2006

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Premenstrual exacerbation in calcium ATPase disorders of the skin

Journal of the European Academy of Dermatology and Venereology, 2007-03, Vol.21 (3), p.412-413

2007

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Cytomegalovirus esophagitis preceding the diagnosis of systemic lupus erythematosus

Endoscopy, 2007-02, Vol.39 (S 1), p.E218-E218

2007

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Probability in gene expression

Genetics in medicine, 2006-04, Vol.8 (4), p.263-264

Kellermayer, Richard

2006

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The intracellular dissipation of cytosolic calcium following glucose re-addition to carbohydrate depleted Saccharomyces cerevisiae

FEBS letters, 2004-07, Vol.571 (1), p.55-60

2004

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Familial autoinflammatory syndromes in the differential diagnosis of chronic abdominal pain

Zeitschrift für Gastroenterologie, 2007-05, Vol.45 (5)

2007

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Hailey–Hailey Disease and Calcium: Lessons from Yeast

Journal of investigative dermatology, 2004-12, Vol.123 (6), p.1195-1196

2004

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Toll-like receptor 2 deficiency induces epigenomic, transcriptomic and microbiomic changes in the colonic mucosa of mice

Inflammatory bowel diseases, 2011-01, Vol.17 (suppl_1), p.S2-S2

2011

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Extracellular Ca2+ sensing contributes to excess Ca2+ accumulation and vacuolar fragmentation in a pmr1 Δ mutant of S. cerevisiae

Journal of cell science, 2003-04, Vol.116 (8), p.1637-1646

2003

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The vacuolar Ca2+/H+ exchanger Vcx1p/Hum1p tightly controls cytosolic Ca2+ levels in S. cerevisiae

FEBS letters, 1999-05, Vol.451 (2), p.132-136

1999

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Clinical presentation of parvovirus B19 infection in children with aplastic crisis

The Pediatric infectious disease journal, 2003-12, Vol.22 (12), p.1100-1101

2003

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Calcium and magnesium competitively influence the growth of a PMR1 deficient Saccharomyces cerevisiae strain

FEMS microbiology letters, 2005-10, Vol.251 (2), p.333-339

2005

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Electrically induced gel-to-gel phase-transition in neurons

Cell biology international, 2006-02, Vol.30 (2), p.175-182

2006

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The Golgi Apparatus Plays a Significant Role in the Maintenance of Ca2+ Homeostasis in the vps33ΔVacuolar Biogenesis Mutant of Saccharomyces cerevisiae

The Journal of biological chemistry, 1999-02, Vol.274 (9), p.5939-5947

1999

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Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia

EJD. European journal of dermatology, 2005-03, Vol.15 (2), p.75-79

2005

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Cytomegalovirus esophagitis preceding the diagnosis of systemic lupus erythematosus

Endoscopy, 2007-12, Vol.39 (S 1), p.E239-E239

2007

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Extracellular Ca super(2+) sensing contributes to excess Ca super(2+) accumulation and vacuolar fragmentation in a pmr1 Delta mutant of S. cerevisiae

Journal of cell science, 2003-04, Vol.116 (8), p.1637-1646

2003

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Congenital chylothorax in Opitz G/BBB syndrome

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1119-1121

2006

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Short Report: CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

Clinical genetics, 2006-09, Vol.70 (3), p.246-249

2006

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Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An example for successive ring chromosome formation

American journal of medical genetics. Part A, 2005-12, Vol.139A (3), p.234-235

2005

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Mutations in the yeast Hsp40 chaperone protein Ydj1 cause defects in Axl1 biogenesis and pro-a-factor processing

The Journal of biological chemistry, 1999-11, Vol.274 (48), p.34396-34402

1999

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α‐thalassemia/mental retardation syndrome in a 45,X male

American journal of medical genetics, 2005-02, Vol.132A (4), p.431-433

2005

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Copy Number Variations in Adult-onset Neuropsychiatric Diseases

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

Hailey–Hailey disease from a clinical perspective

The versatile RECQL4

Premenstrual exacerbation in calcium ATPase disorders of the skin

Cytomegalovirus esophagitis preceding the diagnosis of systemic lupus erythematosus

Probability in gene expression

The intracellular dissipation of cytosolic calcium following glucose re-addition to carbohydrate depleted Saccharomyces cerevisiae

Familial autoinflammatory syndromes in the differential diagnosis of chronic abdominal pain

Hailey–Hailey Disease and Calcium: Lessons from Yeast

Toll-like receptor 2 deficiency induces epigenomic, transcriptomic and microbiomic changes in the colonic mucosa of mice

Extracellular Ca2+ sensing contributes to excess Ca2+ accumulation and vacuolar fragmentation in a pmr1 Δ mutant of S. cerevisiae

The vacuolar Ca2+/H+ exchanger Vcx1p/Hum1p tightly controls cytosolic Ca2+ levels in S. cerevisiae

Clinical presentation of parvovirus B19 infection in children with aplastic crisis

Calcium and magnesium competitively influence the growth of a PMR1 deficient Saccharomyces cerevisiae strain

Electrically induced gel-to-gel phase-transition in neurons

The Golgi Apparatus Plays a Significant Role in the Maintenance of Ca2+ Homeostasis in the vps33ΔVacuolar Biogenesis Mutant of Saccharomyces cerevisiae

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia

Cytomegalovirus esophagitis preceding the diagnosis of systemic lupus erythematosus

Extracellular Ca super(2+) sensing contributes to excess Ca super(2+) accumulation and vacuolar fragmentation in a pmr1 Delta mutant of S. cerevisiae

Congenital chylothorax in Opitz G/BBB syndrome

Short Report: CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An example for successive ring chromosome formation

Mutations in the yeast Hsp40 chaperone protein Ydj1 cause defects in Axl1 biogenesis and pro-a-factor processing

α‐thalassemia/mental retardation syndrome in a 45,X male

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