Author details

Full Name

Ilse Wieland

Affiliation

Institute of Human Genetics, University Hospital Magdeburg

ORCID

Career Start Year

1985

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34331184	Unusual phenotypes in patients with a pathogenic germline variant in DICER1.	Fam Cancer	2023
34959047	Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia.	Neuroimage Clin	2022
35351629	Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.	Eur J Med Genet	2022
35475025	Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus.	J Endocr Soc	2022
35728810	Evidence of neural crest cell origin of a DICER1 mutant CNS sarcoma in a child with DICER1 syndrome and NRAS-mutant neurocutaneous melanosis.	Neuropathol Appl Neurobiol	2022
35641267	Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the <i>NF1</i> Gene in the Osseous Lesion.	Anticancer Res	2022
35600592	A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.	Front Endocrinol (Lausanne)	2022
36339418	Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.	Front Endocrinol (Lausanne)	2022
34972725	Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.	In Vivo	2022
34254124	Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.	Hum Mol Genet	2021
33910856	Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.	In Vivo	2021
33622887	<i>KRAS</i> Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance.	In Vivo	2021
34720857	Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia.	Front Neurosci	2021
34114335	Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.	Am J Med Genet A	2021
32487640	Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg.	Anticancer Res	2020
33193079	Possible New Strategies for the Treatment of Congenital Hyperinsulinism.	Front Endocrinol (Lausanne)	2020
30548225	Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.	Pigment Cell Melanoma Res	2019
30891959	Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.	Mol Genet Genomic Med	2019
29335739	A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.	Acta Derm Venereol	2018
30388402	NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.	Am J Hum Genet	2018
26970110	Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.	Clin Genet	2016
28508606	Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 Children.	Pediatr Endocrinol Rev	2016
26581065	Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations.	J Pediatr Endocrinol Metab	2016
24919122	Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.	Cleft Palate Craniofac J	2015
26476772	Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement.	J Neurol Sci	2015
26580852	Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal Syndrome.	Invest Ophthalmol Vis Sci	2015
25660097	Genetic Variants of DICE1/INTS6 in German Prostate Cancer Families with Linkage to 13q14.	Urol Int	2015
24401662	Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.	Horm Res Paediatr	2014
25251057	A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.	Am J Med Genet A	2014
24376213	Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.	Am J Med Genet A	2014
23436452	High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.	Am J Med Genet A	2013
20565770	The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.	BMC Med Genet	2010
19906297	INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling.	Cancer Cell Int	2009
18043713	Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.	Eur J Hum Genet	2008
23776344	Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).	Appl Clin Genet	2008
18386327	Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.	Hum Genet	2008
18386322	Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome.	Hum Genet	2008
18041775	The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.	Am J Med Genet A	2007
18391514	Familial translocation t(1;9) associated with macromastia: molecular cloning of the breakpoints.	Sex Dev	2007
17941886	Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.	Clin Genet	2007
16845657	High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).	Genes Chromosomes Cancer	2006
17297707	Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0551.	Hum Genet	2006
17297706	Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease. Accession #Hm0550.	Hum Genet	2006
15565397	A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.	Neurogenetics	2005
16143553	Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.	Mol Genet Metab	2005
16007164	Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer.	Oncogene	2005
15959873	Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).	Hum Mutat	2005
15121782	Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.	J Med Genet	2004
15254679	Ectopic expression of DICE1 suppresses tumor cell growth.	Oncol Rep	2004
15278364	Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer.	Arch Dermatol Res	2004

1 - 50 of 75

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 2

Shashikant Kulkarni

Centene Center for Health Transformation, Centene Corporation

Career Start Year 1998

Number of shared co-authors 2

Robert L Walker

Center for Cancer Research, National Cancer Institute, National Institutes of Health

Career Start Year 1997

Number of shared co-authors 0

Karoly Szuhai

Leiden University Medical Center

Career Start Year 1997

Number of shared co-authors 0

Alexei Protopopov

The University of MD Anderson Cancer Center

Career Start Year 1995

Number of shared co-authors 0

Doris Steinemann

Hannover Medical School

Career Start Year 1994

Number of shared co-authors 1

Patrick S Tarpey

Wellcome Trust Sanger Institute

Career Start Year 1992

Number of shared co-authors 0

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 5

Ming-Hui Wei

Yantai Affiliated Hospital of Binzhou Medical University

Career Start Year 1991

Number of shared co-authors 0

Shrikant Mane

Yale School of Medicine

Career Start Year 1989

Number of shared co-authors 1

Ming K Lee

University of Washington

Career Start Year 1988

Number of shared co-authors 0

Olivier Delattre

PSL Research University, Institut Curie Research Center, INSERM U, Institut Curie

Career Start Year 1987

Number of shared co-authors 1

Cornelius F Boerkoel

University of British Columbia

Career Start Year 1987

Number of shared co-authors 2

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 6

Michael R Stratton

Wellcome Sanger Institute

Career Start Year 1987

Number of shared co-authors 0

Peter Lichter

German Cancer Research Center (DKFZ)

Career Start Year 1986

Number of shared co-authors 2

Jiannis Ragoussis

McGill University

Career Start Year 1986

Number of shared co-authors 2

Brandon J Wainwright

The University of Queensland Diamantina Institute, The University of Queensland

Career Start Year 1985

Number of shared co-authors 2

Ann M Killary

The University of Texas M. D. Anderson Cancer Center

Career Start Year 1984

Number of shared co-authors 0

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 4

Margaret R Wallace

UF Genetics Institute, University of Florida

Career Start Year 1983

Number of shared co-authors 2

Settara C Chandrasekharappa

National Institutes of Health

Career Start Year 1983

Number of shared co-authors 1

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 2

Michael Dean

National Cancer Institute

Career Start Year 1980

Number of shared co-authors 2

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 1

Javier Ben??tez

Instituto de Salud Carlos III

Career Start Year 1975

Number of shared co-authors 0

Otto Sanchez

Ontario Tech University

Career Start Year 1973

Number of shared co-authors 0

Paul S Meltzer

Center for Cancer Research, National Cancer Institute, National Institutes of Health

Career Start Year 1970

Number of shared co-authors 0

Paolo Radice

Ospedale Circolo e Fondazione Macchi

Career Start Year 1969

Number of shared co-authors 0

Albert de la Chapelle

The Ohio State University Comprehensive Cancer Center

Career Start Year 1961

Number of shared co-authors 0

row(s) 1 - 30 of 30

Martin Zenker

Co-authored papers 24

Netta Levin

Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem

Co-authored papers 2

Elaine H Zackai

Children's Hospital of Philadelphia

Co-authored papers 2

Irene F Newsham

MD Anderson Cancer Center

Co-authored papers 1

Ulrich Sch??ller

University Medical Center Hamburg-Eppendorf

Co-authored papers 1

Ghayda M Mirzaa

Seattle Children's Hospital.

Co-authored papers 1

Udo Kontny

Co-authored papers 1

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 1

Jung Kim

Clinical Genetics Branch, National Cancer Institute

Co-authored papers 1

Jacques S Beckmann

University of Lausanne

Co-authored papers 1

Kristian W Pajtler

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg University

Co-authored papers 1

Christian Mawrin

Co-authored papers 1

Katja von Hoff

Co-authored papers 1

Marilyn J Telen

Co-authored papers 1

Karen Gorse

9Virginia Commonwealth University

Co-authored papers 1

Megan T Cho

Co-authored papers 1

Fiona Stewart

Belfast City Hospital

Co-authored papers 1

William B Dobyns

University of Minnesota

Co-authored papers 1

Charlotte M Niemeyer

Co-authored papers 1

Oliver B??gler

American Association for Cancer Research, Henry Ford Hospital, Ludwig Institute for Cancer Research, National Cancer Institute, Salk Institute for Biological Studies, University of Cambridge, University of Texas MD Anderson Cancer Center, Virginia Commonwealth University

Co-authored papers 1

Douglas R Stewart

Clinical Genetics Branch, National Cancer Institute

Co-authored papers 1

Dawn Earl

Co-authored papers 1

Yen Tran

University of California Davis

Co-authored papers 1

Elliott H Sherr

Co-authored papers 1

Mark R Green