H. Rehder

U. Kornak, H. Rehder, M. Amling, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

R. Abou Jamra, H. Rehder, A. Leal, 2021, European journal of human genetics : EJHG.

Partial trisomy 1q syndrome

H. Rehder, U. Friedrich, 1979, Clinical genetics.

Double‐Outlet Left Ventricle in Association With Heterotaxy and Left Isomerism of the Atrial Appendages

H. Rehder, R. Axt‐Fliedner, C. Enzensberger, 2012, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity

H. Rehder, E. Schwinger, F. Louwen, 2012, Prenatal Diagnosis.

DNA techniques in prenatal diagnosis and in genetic pathology.

J. Opitz, H. Rehder, U. Friedrich, 1987, American journal of medical genetics. Supplement.

Clinical, Cytogenetic and Molecular Investigation in a Fetus with Wolf-Hirschhorn Syndrome with Paternally Derived 4p Deletion

H. Rehder, B. Fritz, D. Huhle, 2004, Fetal Diagnosis and Therapy.

Down's syndrome in the male. Reproductive pathology and meiotic studies

H. Rehder, E. Schwinger, H. Winking, 2004, Human Genetics.

Spermatogenesis in two patients with the fragile X syndrome

H. Rehder, E. Schwinger, V. Wendt, 1987, Human Genetics.

Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome

G. Hülskamp, D. Wieczorek, H. Rehder, 2003, Clinical dysmorphology.

Polyploidies in abortion material decrease with maternal age

H. Rehder, E. Schwinger, M. Neuber, 1993, Human Genetics.

Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn

W. Holzgreve, H. Rehder, P. Meinecke, 1990, Clinical genetics.

Variability in the phenotypic expression of fryns syndrome: A report of two sibships.

W. Holzgreve, H. Rehder, G. Gillessen‐kaesbach, 2000, American journal of medical genetics.

Pigmentary mosaicism in hypomelanosis of Ito

H. Rehder, A. Naumova, K. Ørstavik, 1998, Human Genetics.

Prune belly sequence associated with trisomy 13.

H. Rehder, R. Rauskolb, H. Beckmann, 1984, American journal of medical genetics.

Dysgerminoma in Turner's syndrome.

H. Rehder, T. Melcher, 1976, Beitrage zur Pathologie.

Quantitative histology of human fetal testes in chromosomal disease.

H. Rehder, A. Gropp, R. Johannisson, 1985, Pediatric pathology.

Prenatal diagnosis of partial monosomy 4p

H. Rehder, A. Wirtz, S. Stengel-Rutkowski, 1982 .

Prenatal morphology in meckel's syndrome (with special reference to polycystic kidneys and double encephalocele)

H. Rehder, F. Labbé, 1981, Prenatal diagnosis.

VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.

H. Rehder, E. Schwinger, S. Wallner, 1996, American journal of medical genetics.

Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.

W. Holzgreve, H. Rehder, B. Dworniczak, 1995, American journal of medical genetics.

Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect

H. Rehder, P. Steinbach, 1987, Clinical genetics.

Severe Facial Clefts in Acrofacial Dysostosis: A Consequence of Prenatal Exposure to Mycophenolate Mofetil?

H. Rehder, J. Steinhard, J. Figiel, 2008, Obstetrics and gynecology.

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene

T. Callens, L. Messiaen, K. Wimmer, 2002, European Journal of Human Genetics.

BRCA2 germline mutations in familial pancreatic carcinoma.

A. Ziegler, M. Rothmund, R. Grützmann, 2003, Journal of the National Cancer Institute.

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

R. Schild, H. Rehder, F. Laccone, 2018, American journal of medical genetics. Part A.

Microdeletion 22q11 in complex cardiovascular malformations

H. Barth, H. Rehder, I. Michel-Behnke, 1997, Human Genetics.

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

E. Mariman, H. Ropers, H. Rehder, 1993, Nature Genetics.

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

H. Rehder, B. Fritz, W. Coerdt, 2001, European Journal of Human Genetics.

Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology

H. Rehder, E. Schwinger, W. Coerdt, 1984, Clinical genetics.

Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5 (5q33 to qter).

H. Rehder, E. Passarge, M. Bartsch-Sandhoff, 1982, Teratology.

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.

H. Rehder, B. Fritz, M. Köhler, 1999, American journal of medical genetics.

Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis

H. Rehder, J. Kunz, B. Fritz, 2009, Archives of gynecology and obstetrics.

Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.

H. Rehder, C. Waldenmaier, B. Zoll, 1992, American journal of medical genetics.

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome‐like phenotype and rhabdoid tumor of the kidney

R. Wieser, H. Rehder, R. Ullmann, 2005, Human mutation.

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel–Manzke syndrome in a fetus

D. Horn, Nadja Ehmke, U. Kornak, 2017, American journal of medical genetics. Part A.

Cardiac defects in chromosomally abnormal human embryos of 10–14 weeks' gestation

W. Holzgreve, H. Rehder, P. Miny, 1988, Prenatal diagnosis.

Prenatal Diagnosis and Obstetric Management of Larsen’s Syndrome in a Patient with an Unrecognized Family History of the Disease

W. Holzgreve, M. Dören, H. Rehder, 1998, Gynecologic and Obstetric Investigation.

Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?

R. Eggers, H. Rehder, E. Schwinger, 1989, Human Genetics.

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

H. Rehder, V. Kalscheuer, K. Saar, 2001, European Journal of Human Genetics.

A case of full triploidy (69,XXX) of paternal origin with unusually long survival time

H. Rehder, B. Zoll, S. C. Niemann‐Seyde, 1993, Clinical genetics.

Prenatal diagnosis of a 46,XX/47,XX, +12 mosaic

H. Rehder, E. Schwinger, U. Friedrich, 1984, Prenatal diagnosis.

Prenatal diagnosis, fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic

G. Gimelli, H. Rehder, M. Fraccaro, 1983, Prenatal diagnosis.

Chromosome mosaicism of the placenta—a cause of developmental failure of the fetus?

H. Rehder, E. Schwinger, F. Klink, 1989, Prenatal diagnosis.

PRENATAL TRISOMY 20 MOSAICISM: ORIGIN IN FETAL KIDNEY CELLS?

H. Rehder, E. Schwinger, 1981, The Lancet.

Cystic hygrolma as an early first‐trimester ultrasound marker for recurrent Fryns' syndrome

W. Holzgreve, H. Rehder, I. Hösli, 1997, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization

H. Rehder, B. Horsthemke, D. Lohmann, 2001, Human Genetics.

Skeletal anomalies in trisomy 21 as an example of amplified developmental instability in chromosome disorders: a histological study of the feet of 21 mid-trimester fetuses with trisomy 21.

H. Rehder, U. Langenbeck, E. Blum-Hoffmann, 1988, American journal of medical genetics.

Descriptive neuropathology of chromosomal disorders in man

H. Rehder, A. Gropp, F. Gullotta, 2004, Human Genetics.

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

H. Rehder, F. Laccone, G. Gras, 2018, Molecular Syndromology.

Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue.

D. Lev, H. Rehder, M. Frydman, 2000, American journal of medical genetics.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, R. Gershoni-baruch, G. Hülskamp, 2005, Nature Genetics.

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients

P. Stadler, K. Wimmer, H. Rehder, 2000, Human mutation.

Neural tube defects in chromosomally normal and abnormal human embryos

W. Holzgreve, H. Rehder, E. Schwinger, 1997, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Bilateral renal agenesis with Potter phenotype, cleft palate, anomalies of the cardiovascular system, skeletal anomalies including hexadactyly and bifid metacarpal. A new syndrome?

W. Holzgreve, H. Rehder, H. Wagner, 1984, American journal of medical genetics.

Twin pregnancy, abortion of one fetus with Down's syndrome by sectio parva, the other delivered mature and healthy.

H. Rehder, H. Gebauer, U. Claussen, 1981, European journal of obstetrics, gynecology, and reproductive biology.

Roberts syndrome and SC phocomelia. A single genetic entity

U. Froster-Iskenius, H. Rehder, E. Schwinger, 1987, Clinical genetics.

Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis).

H. Rehder, 1978, Pathology, research and practice.

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome

H. Rehder, P. Burfeind, B. Auber, 2007, Clinical genetics.

Molecular approaches to developmental genetics and pathology.

H. Rehder, U. Friedrich, 1987, American journal of medical genetics. Supplement.

Prenatal Diagnosis and Fetopathological Findings in a Fetus with Ring Chromosome 18

H. Rehder, B. Zoll, I. Hansmann, 1998, Fetal Diagnosis and Therapy.

Neuropathology of Raine syndrome

G. Hülskamp, H. Rehder, W. Paulus, 2002, Acta Neuropathologica.

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

A. Scharrer, H. Rehder, H. Ringl, 2023, American journal of medical genetics. Part A.

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

H. Rehder, J. Zschocke, R. Schmitz, 2019, Birth defects research.

Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations

H. Rehder, W. Grote, H. Wiedemann, 1984, European Journal of Pediatrics.

INTESTINAL ATRESIA CAUSED BY SECOND TRIMESTER AMNIOCENTESIS

H. Rehder, A. J. Therkelsen, 1981 .

Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A

J. Finsterer, H. Rehder, C. Stöllberger, 2014, Cardiology.

A new autosomal recessive skeletal dysplasia syndrome--prenatal diagnosis and histopathology.

H. Rehder, W. Fuhrmann, V. Jovanovic, 1982, Progress in clinical and biological research.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain

H. Rehder, S. Rohde, A. Leal, 2021, medRxiv.

Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen.

H. Rehder, C. Fonatsch, G. Amann, 2000, American journal of medical genetics.

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations

H. Rehder, H. Ringl, Mateja Smogavec, 2023, Orphanet Journal of Rare Diseases.

Ivemark Syndrome

H. Rehder, F. Oberheuser, F. Klink, 2019 .

Anencephaly in one monoamniotic-monochorionic twin and encephalocele in the other.

H. Rehder, B. Putz, 1985, American journal of medical genetics.

Rare oculo-rhino-auditive variants of the branchial arch syndrome. Report of three cases with two necropsy records.

H. Rehder, W. Engel, S. di Lollo, 1985, Ophthalmic paediatrics and genetics.

High frequency of p.Thr93Met in Smith‐Lemli‐Opitz syndrome patients in Turkey

H. Rehder, S. Kurtoğlu, J. Zschocke, 2012, Clinical genetics.

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.

H. Rehder, B. Padberg, G. Gillessen‐kaesbach, 1993, American journal of medical genetics.

The fetal pathology of the XXXXY‐syndrome

G. Gimelli, H. Rehder, M. Fraccaro, 1986, Clinical genetics.

INTRAUTERINE AMPUTATIONS AFTER AMNIOCENTESIS

H. Rehder, Hans Weitzel, 1978, The Lancet.

Fetal Manifestation of the Fine-Lubinsky Syndrome

H. Rehder, B. Fritz, R. Bald, 2008, Fetal Diagnosis and Therapy.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

H. Rehder, J. Zschocke, F. Laccone, 2011, European Journal of Human Genetics.

Chromosomal anomalies and central nervous system.

H. Rehder, F. Gullotta, 1974, Beitrage zur Pathologie.

Hyperactive SHP2 Mutants Impair Chondrocyte Differentiation During Endochondral Bone Growth in Noonan Syndrome

S. Szelinger, W. Dreschler, K. Devriendt, 2018, American Journal of Medical Genetics Part A.

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach

R. Moll, H. Rehder, M. Zenker, 2012, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Formalin-Fixed and Paraffin-Embedded Tissue Sections

H. Rehder, H. Rieder, Y. Mehraein, 2002 .

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome.

H. Rehder, L. Tranebjaerg, M. Mikkelsen, 1984, Annales de genetique.

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, A. Ekici, R. Gershoni-baruch, 2006, Nature Genetics.

Pathology of trisomy 21--with particular reference to persistent common atrioventricular canal of the heart.

H. Rehder, 1981, Human genetics. Supplement.

Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

H. Rehder, A. Naumova, K. Orstavik, 1998, Human genetics.

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.

K. Zerres, H. Rehder, C. Bergmann, 2008, The New England journal of medicine.

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

H. Rehder, J. Zschocke, F. Laccone, 2011, European Journal of Human Genetics.