E. Steichen‐Gersdorf

发表

Localisation of the breast‐ovarian cancer susceptibility gene (BRCAI) on 17q12–21 to an interval of ⩽IcM

Raymond L. White, M. Stratton, B. Ponder, 1994, Genes, chromosomes & cancer.

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

Activity of Childhood Lupus Nephritis is Linked to Altered T Cell and Cytokine Homeostasis

L. Weber, B. Tönshoff, A. Griesmacher, 2012, Journal of Clinical Immunology.

Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.

D. Easton, S. Mazoyer, R. Dicioccio, 1994, American journal of human genetics.

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

T. Strom, E. Steichen‐Gersdorf, B. Lorenz-Depiereux, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Persistent hyperplastic primary vitreous in a family with osteoporosis‐pseudoglioma syndrome

E. Steichen‐Gersdorf, W. Sperl, K. Unsinn, 1997, Clinical dysmorphology.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

W. Schmidt, A. Janecke, T. Müller, 2017, European Journal of Human Genetics.

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

D. Karall, A. Superti-Furga, E. Steichen‐Gersdorf, 2016, Scientific Reports.

A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate

E. Steichen‐Gersdorf, W. Sperl, M. Vanier, 1994, Journal of Inherited Metabolic Disease.

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

S. Mundlos, H. Brunner, C. Ott, 2010, Human mutation.

Miikka Vikkula, Laurence M. Boon, Andrea Superti-Furga, 2001, Cell.

Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)

G. Utermann, R. Trawöger, E. Steichen‐Gersdorf, 1993, Human Genetics.

Characterisation of X; 17(q12;p 13) Translocation Breakpoints in a Female Patient with Hypomelanosis of Ito and Choroid Plexus Papilloma

A. Monaco, T. Kirchhoff, S. Horsley, 1997, European journal of human genetics : EJHG.

Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications

Y. Frishberg, S. Waldegger, A. Janecke, 2017, Human mutation.

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

R. Scott, C. Ogilvy, I. Awad, 1998, Human molecular genetics.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

W. Schmidt, A. Janecke, T. Müller, 2016, European Journal of Human Genetics.

A Newborn with Arterial Tortuosity Syndrome: The Importance of Timely Diagnostic Work-Up in Patients Presenting with Cutis Laxa

E. Ralser, R. Trawöger, E. Steichen‐Gersdorf, 2016 .

Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.

E. Steichen‐Gersdorf, H. Fischer, I. Gassner, 1994, Clinical dysmorphology.

Soluble VEGF receptor 1 promotes endothelial injury in children and adolescents with lupus nephritis

L. Weber, B. Tönshoff, D. Haffner, 2012, Pediatric Nephrology.

Deletion mapping on chromosome 17p in medulloblastoma.

E. Steichen‐Gersdorf, A. Kreczy, M. Baumgartner, 1997, British Journal of Cancer.

A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants

A. Janecke, T. Müller, E. Steichen‐Gersdorf, 2017, Clinical genetics.

Familial cavernous angiomas of the brain: Observations in a four generation family

K. Twerdy, E. Steichen‐Gersdorf, S. Felber, 1992, European Journal of Pediatrics.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Transient Symptomatic Zinc Deficiency in a Breast‐fed Preterm Infant

E. Steichen‐Gersdorf, F. Fink, U. Kiechl-Kohlendorfer, 2007, Pediatric dermatology.

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

B. Kollerits, J. Zschocke, E. Steichen‐Gersdorf, 2012, European Journal of Human Genetics.

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

S. Nampoothiri, E. Steichen‐Gersdorf, F. Laccone, 2019, Orphanet Journal of Rare Diseases.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

A. Munnich, B. Tüysüz, R. Maroofian, 2018, Nature Communications.

Continuous arteriovenous haemofiltration in a neonate with hyperammonaemic coma due to citrullinaemia

E. Steichen‐Gersdorf, W. Sperl, C. Murr, 1992, Journal of Inherited Metabolic Disease.

Activity of Childhood Lupus Nephritis is Linked to Altered T Cell and Cytokine Homeostasis

L. Weber, B. Tönshoff, A. Griesmacher, 2012, Journal of Clinical Immunology.

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

S. Mundlos, E. Klopocki, R. Ullmann, 2008, Clinical genetics.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Deletion mapping on chromosome 17p in medulloblastoma.

E. Steichen‐Gersdorf, A. Kreczy, M. Baumgartner, 1997, British Journal of Cancer.