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Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

Human reproduction (Oxford), 2000-12, Vol.15 (12), p.2559-2562

2000

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Familial Occurrence of the IMAGe Association: Additional Clinical Variants and a Proposed Mode of Inheritance

The journal of clinical endocrinology and metabolism, 2005-06, Vol.90 (6), p.3186-3190

2005

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A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

Human reproduction (Oxford), 2016-04, Vol.31 (4), p.905-914

2016

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HGG-18. Long-term efficacy and safety of larotrectinib in paediatric patients with tropomyosin receptor kinase (TRK) fusion-positive primary central nervous system (CNS) tumours

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (Supplement_1), p.i64-i64

2022

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Regulation of Persistent Activity by Background Inhibition in an In Vitro Model of a Cortical Microcircuit

Cerebral cortex (New York, N.Y. 1991), 2003-11, Vol.13 (11), p.1232-1241

2003

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CTNI-67. EFFICACY AND SAFETY OF LAROTRECTINIB IN PATIENTS WITH TROPOMYOSIN RECEPTOR KINASE (TRK) FUSION PRIMARY CENTRAL NERVOUS SYSTEM (CNS) TUMORS: AN EXPANDED DATASET

Neuro-oncology (Charlottesville, Va.), 2020-11, Vol.22 (Supplement_2), p.ii58-ii58

2020

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Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development

Human molecular genetics, 2008-04, Vol.17 (7), p.1010-1019

2008

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The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

Human molecular genetics, 2008-10, Vol.17 (20), p.3118-3127

2008

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Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?

Human reproduction (Oxford), 2014-03, Vol.29 (3), p.394-399

2014

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Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency

Human molecular genetics, 2011-07, Vol.20 (13), p.2642-2650

2011

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human molecular genetics, 2001-07, Vol.10 (15), p.1591-1600

2001

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MHC class II-deficient tumor cell lines with a defective expression of the class II transactivator

International immunology, 2002-05, Vol.14 (5), p.481-491

2002

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Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation

Human molecular genetics, 2005-12, Vol.14 (23), p.3557-3564

2005

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The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

Human molecular genetics, 2008, Vol.17, p.3118-3127

2008

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Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism

Molecular human reproduction, 2000-04, Vol.6 (4), p.298-302

2000

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Absence of mutations involving the lim homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis : Hormones and reproductive health

The journal of clinical endocrinology and metabolism, 2001, Vol.86 (6), p.2465-2469

2001

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Absence of Mutations Involving the Lim Homeobox Domain Gene LHX9 in 46,XY Gonadal Agenesis and Dysgenesis

The journal of clinical endocrinology and metabolism, 2001-06, Vol.86 (6), p.2465-2469

2001

Volltextzugriff (PDF)

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Human molecular genetics, 1995-09, Vol.4 (9), p.1565-1568

1995

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Andrology. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

Human reproduction (Oxford), 2000-12, Vol.15 (12), p.2559-2559

2000

Volltextzugriff (PDF)

Cytogenetic Study of a European Burkitt’s Lymphoma Cell Line

JNCI : Journal of the National Cancer Institute, 1979-05, Vol.62 (5), p.1187-1192

1979

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Deciphering the Routes of invasion of Drosophila suzukii by Means of ABC Random Forest

Molecular biology and evolution, 2017-04, Vol.34 (4), p.980-996

2017

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Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

Familial Occurrence of the IMAGe Association: Additional Clinical Variants and a Proposed Mode of Inheritance

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing

HGG-18. Long-term efficacy and safety of larotrectinib in paediatric patients with tropomyosin receptor kinase (TRK) fusion-positive primary central nervous system (CNS) tumours

Regulation of Persistent Activity by Background Inhibition in an In Vitro Model of a Cortical Microcircuit

CTNI-67. EFFICACY AND SAFETY OF LAROTRECTINIB IN PATIENTS WITH TROPOMYOSIN RECEPTOR KINASE (TRK) FUSION PRIMARY CENTRAL NERVOUS SYSTEM (CNS) TUMORS: AN EXPANDED DATASET

Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?

Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

MHC class II-deficient tumor cell lines with a defective expression of the class II transactivator

Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation

The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles

Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism

Absence of mutations involving the lim homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis : Hormones and reproductive health

Absence of Mutations Involving the Lim Homeobox Domain Gene LHX9 in 46,XY Gonadal Agenesis and Dysgenesis

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Andrology. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

Cytogenetic Study of a European Burkitt’s Lymphoma Cell Line

Deciphering the Routes of invasion of Drosophila suzukii by Means of ABC Random Forest

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