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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1383-1389

2019

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Dictionnaire Républicain et Révolutionnaire (1793/94): sowie »Anecdotes Curieuses et Républicaines« (1795)

Jean Rodoni / Ilona Pabst, Brigitte Schlieben-Lange / Ilona Pabst, Brigitte Schlieben-Lange

Reprint 2012., 2012

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Gilbert syndrome redefined: A complex genetic haplotype influences the regulation of glucuronidation

Hepatology (Baltimore, Md.), 2012-06, Vol.55 (6), p.1912-1921

2012

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Sequential anti-cytomegalovirus response monitoring may allow prediction of cytomegalovirus reactivation after allogeneic stem cell transplantation

PloS one, 2012-12, Vol.7 (12), p.e50248-e50248

2012

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16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

Clinical genetics, 2019-07, Vol.96 (1), p.85-90

2019

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Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry

International journal of cardiology, 2023-05, Vol.379, p.96-99

2023

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A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome

Breast cancer research and treatment, 2018-12, Vol.172 (3), p.561-569

2018

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PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1598-1604

2016

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Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]

European journal of human genetics : EJHG, 2014-09, Vol.22 (9), p.1153-1153

2014

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Gilbert syndrome redefined: A complex genetic haplotype influences the regulation of glucuronidation

Hepatology (Baltimore, Md.), 2012-06, Vol.55 (6), p.1912-1921

2012

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Constitutional trisomy 8p11.21‐q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia

British journal of haematology, 2011-10, Vol.155 (2), p.209-217

2011

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Persistence of Recipient-Derived Antiviral T cells Severely Influence Donor Chimerism Post Allogeneic HSCT

Blood, 2011-11, Vol.118 (21), p.3240-3240

2011

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Gain of the Centromeric Region of Chromosome 8, a New Germline Alteration In Juvenile Myelomonocytic Leukemia

Blood, 2010-11, Vol.116 (21), p.4830-4830

2010

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Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

Journal of molecular and cellular cardiology, 2007-02, Vol.42 (2), p.352-356

2007

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Correlation of donor leukocyte chimerism with pulmonary allograft survival after immunosuppressive drug withdrawal in a porcine model

Transplantation, 2009-05, Vol.87 (10), p.1468-1477

2009

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Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

European journal of medical genetics, 2010-09, Vol.53 (5), p.280-285

2010

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Correction: Sequential Anti-Cytomegalovirus Response Monitoring May Allow Prediction of Cytomegalovirus Reactivation after Allogeneic Stem Cell Transplantation

PloS one, 2013-01, Vol.8 (4)

2013

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Distribution of epidermal growth factor receptor gene amplification in brain tumours and correlation to prognosis

Journal of neurology, 1995-10, Vol.242 (10), p.683-688

1995

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Analysis of K-ras mutations in pancreatic tissue after fine needle aspirates

Anticancer research, 1999-07, Vol.19 (4A), p.2481

1999

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Loss of alleles in brain tumours : distribution and correlations with clinical course

Journal of neurology, 1995-10, Vol.242 (10), p.707-711

1995

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DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002

Genetic testing, 2005-03, Vol.9 (1), p.80-84

2005

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Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1

Annales de génétique, 2002, Vol.45 (1), p.5-8

2002

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Influence of antisense mos oligos on oocyte maturation in the mouse

Cell biology international reports, 1990-09, Vol.14, p.58-58

1990

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Long-term stability of sterically stabilized liposomes by freezing and freeze-drying: Effects of cryoprotectants on structure

European journal of pharmaceutical sciences, 2010-11, Vol.41 (3), p.546-555

2010

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Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

Dictionnaire Républicain et Révolutionnaire (1793/94): sowie »Anecdotes Curieuses et Républicaines« (1795)

Gilbert syndrome redefined: A complex genetic haplotype influences the regulation of glucuronidation

Sequential anti-cytomegalovirus response monitoring may allow prediction of cytomegalovirus reactivation after allogeneic stem cell transplantation

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome

Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry

A tandem duplication of BRCA1 exons 1–19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]

Gilbert syndrome redefined: A complex genetic haplotype influences the regulation of glucuronidation

Constitutional trisomy 8p11.21‐q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia

Persistence of Recipient-Derived Antiviral T cells Severely Influence Donor Chimerism Post Allogeneic HSCT

Gain of the Centromeric Region of Chromosome 8, a New Germline Alteration In Juvenile Myelomonocytic Leukemia

Correction: Sequential Anti-Cytomegalovirus Response Monitoring May Allow Prediction of Cytomegalovirus Reactivation after Allogeneic Stem Cell Transplantation

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

Correlation of donor leukocyte chimerism with pulmonary allograft survival after immunosuppressive drug withdrawal in a porcine model

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

Correction: Sequential Anti-Cytomegalovirus Response Monitoring May Allow Prediction of Cytomegalovirus Reactivation after Allogeneic Stem Cell Transplantation

Distribution of epidermal growth factor receptor gene amplification in brain tumours and correlation to prognosis

Analysis of K-ras mutations in pancreatic tissue after fine needle aspirates

Loss of alleles in brain tumours : distribution and correlations with clinical course

DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002

Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1

Influence of antisense mos oligos on oocyte maturation in the mouse

Long-term stability of sterically stabilized liposomes by freezing and freeze-drying: Effects of cryoprotectants on structure

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