P. Wieacker

发表

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

D. Horn, T. Wieland, E. Schröck, 2012, The Lancet.

Pathophysiological Mechanisms of Dominant and Recessive Kvlqt1 K + Channel Mutations Found in Inherited Cardiac Arrhythmias

B. Wollnik, H. Esperer, C. Kubisch, 1997 .

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation

E. Holinski‐Feder, A. Röpke, P. Wieacker, 2005, Neurogenetics.

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

Z. Gucev, V. Tasic, Bernhard Steiner, 2010, BMC Medical Genetics.

High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11)

A. Röpke, P. Wieacker, M. Volleth, 2006, Genes, chromosomes & cancer.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy.

P. Wieacker, M. Volleth, F. Eckhardt, 2007, Journal of molecular endocrinology.

The relevance of ANXA5 genetic variants on male fertility

P. Wieacker, S. Kliesch, S. Schlatt, 2019, Journal of Assisted Reproduction and Genetics.

Further insights into the role of the annexin A5 M2 haplotype as recurrent pregnancy loss factor, assessing timing of miscarriage and partner risk.

P. Wieacker, F. Tüttelmann, N. Bogdanova, 2013, Fertility and sterility.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria

C. Bönnemann, J. Denecke, P. Wieacker, 2005, Annals of neurology.

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic

W. Reardon, S. Tinschert, P. Wieacker, 2008, European Journal of Human Genetics.

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

P. Wieacker, I. Wieland, 2005, Molecular genetics and metabolism.

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

R. Adams, P. Wieacker, I. Wieland, 2004, American journal of human genetics.

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

W. Kress, O. Zuffardi, D. McDonald-McGinn, 2007, Clinical genetics.

Twenty‐six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

W. Reardon, F. Stewart, S. Tinschert, 2005, Human mutation.

Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p , **

P. Wieacker, M. Volleth, P. Muschke, 2006, American journal of medical genetics. Part A.

Oral contraception in disease states.

M. Breckwoldt, P. Wieacker, F. Geisthövel, 1990, American journal of obstetrics and gynecology.

Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy

A. Erbersdobler, A. Röpke, P. Wieacker, 2004, The Prostate.

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.

S. Brucker, P. Wieacker, A. Tewes, 2015, Fertility and sterility.

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

F. Darendeliler, S. Ahmed, P. Wieacker, 2013, The Journal of clinical endocrinology and metabolism.

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

A. Grüters, H. Biebermann, B. Köhler, 2008, Human mutation.

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

H. Rehder, P. Wieacker, R. Schmitz, 2013, Prenatal diagnosis.

Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.

A. Grüters, H. Biebermann, H. Krude, 2011, The Journal of clinical endocrinology and metabolism.

X inactivation patterns in two syndromes with probable X‐linked dominant, male lethal inheritance

H. Ropers, P. Wieacker, J. Zimmer, 1985, Clinical genetics.

Disorders at the Testicular Level

P. Wieacker, E. Nieschlag, H. Behre, 2010 .

Short Stature Homeobox-Containing Gene (SHOX): Genotype and Phenotype

P. Wieacker, W. Zumkeller, 2001 .

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy

U. Kölsch, P. Wieacker, I. Wieland, 2007, American journal of medical genetics. Part A.

Variations of sex development: The first German interdisciplinary consensus paper.

H. Mentzel, B. Köhler, P. Wieacker, 2019, Journal of pediatric urology.

Clinical and genetic aspects of Mayer–Rokitansky–Küster–Hauser syndrome

P. Wieacker, S. Ledig, 2018, medizinische genetik.

On the genetic length of the short arm of the human X chromosome

T. Wienker, K. Davies, H. Ropers, 2004, Human Genetics.

Regional localization of the human factor IX gene by molecular hybridization

K. Kurachi, H. Ropers, P. Wieacker, 2004, Human Genetics.

Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

S. Brucker, P. Wieacker, K. Rall, 2012, Human reproduction.

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

M. Beckmann, P. Oppelt, P. Wieacker, 2011, Fertility and sterility.

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

H. Lehnert, P. Wieacker, S. Jakubiczka, 1999, Andrologia.

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)

P. Wieacker, S. Jakubiczka, E. Werder, 1992, Human Genetics.

A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor.

P. Wieacker, S. Jakubiczka, I. Knoke, 1997, Cancer genetics and cytogenetics.

Mutations of the androgen receptor gene in patients with complete androgen insensitivity

P. Wieacker, G. Wolff, S. Jakubiczka, 1997, Human mutation.

Ectopic expression of DICE1 suppresses tumor cell growth.

U. Weidle, P. Wieacker, I. Wieland, 2004, Oncology reports.

CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY BY USE OF CLONED DNA SEQUENCES

K. Davies, H. Ropers, P. Pearson, 1983, The Lancet.

Familial Translocation t(1;9) Associated with Macromastia: Molecular Cloning of the Breakpoints

P. Wieacker, M. Volleth, I. Wieland, 2006, Sexual Development.

Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

T. Liehr, P. Wieacker, S. Preisler‐Adams, 2015, Sexual Development.

Genetic Aspects of Premature Ovarian Failure

T. Staudinger, P. Wieacker, Maurice Kienel, 2009 .

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia

P. Wieacker, M. Volleth, I. Wieland, 2004, Journal of Medical Genetics.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

P. Kaplan, S. Mundlos, J. Clayton-Smith, 2008, Nature Genetics.

New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria

P. Wieacker, T. Todorov, A. Savov, 2017, Sexual Development.

A New Missense Substitution at a Mutational Hot Spot of the Androgen Receptor in SiblingsWith Complete Androgen Insensitivity Syndrome

T. Dörk, P. Wieacker, S. Jakubiczka, 1998, Human Mutation.

Molecular monitoring in NUP214-ABL-positive T-acute lymphoblastic leukemia reveals clonal diversity and helps to guide targeted therapy

S. Koschmieder, C. Müller-Tidow, P. Wieacker, 2014, Leukemia.

CD34+ lineage specific donor cell chimerism for the diagnosis and treatment of impending relapse of AML or myelodysplastic syndrome after allo-SCT

J. Gerss, F. Rosenow, W. Berdel, 2013, Bone Marrow Transplantation.

Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

T. Wienker, D. Kloos, P. Wieacker, 1997, Human Genetics.

Maternal carriers of the ANXA5 M2 haplotype are exposed to a greater risk for placenta-mediated pregnancy complications

P. Wieacker, N. Bogdanova, A. Markoff, 2018, Journal of Assisted Reproduction and Genetics.

Intervention of Low-Molecular-Weight Heparin in M2/ANXA5 Haplotype Carriers: A Case Report in Pregnancy

P. Wieacker, T. Tang, N. Bogdanova, 2017 .

M2/ANXA5 haplotype as a predisposition factor in Malay women and couples experiencing recurrent spontaneous abortion: a pilot study.

P. Wieacker, N. Bogdanova, A. Markoff, 2015, Reproductive biomedicine online.

PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2)

M. Röpke, A. Röpke, P. Wieacker, 2007, Cytogenetic and Genome Research.

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

R. Veitia, G. Livera, I. Huhtaniemi, 2018, Trends in Endocrinology & Metabolism.

A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia.

P. Wieacker, M. Stumm, K. Jentsch‐Ullrich, 2000, Cancer genetics and cytogenetics.

Elevated annexin A5 plasma levels in term pregnancies of M2/ANXA5 carriers.

P. Wieacker, T. Tang, R. Schmitz, 2017, Thrombosis research.

Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia.

P. Wieacker, A. Pelz, G. Müller, 2005, Cancer genetics and cytogenetics.

[The normal vascularization of the female breast in Doppler ultrasound].

P. Wieacker, H. Madjar, H. Prömpeler, 1992, Ultraschall in der Medizin.

Gastrointestinal stromal tumors of the vermiform appendix: clinicopathologic, immunohistochemical, and molecular study of 2 cases with literature review.

R. Schneider-Stock, A. Roessner, A. Agaimy, 2008, Human pathology.

Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.

R. Kelsch, A. Röpke, P. Wieacker, 2010, Human reproduction.

Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization

P. Wieacker, G. Scherer, J. Horváth, 2017, Sexual Development.

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

S. Sel, C. Spaich, A. Röpke, 2009, American journal of human genetics.

Diseases of the Seminal Ducts

P. Wieacker, E. Nieschlag, H. Behre, 2010 .

Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report

A. Röpke, P. Wieacker, S. Kliesch, 2013, Journal of Assisted Reproduction and Genetics.

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

A. Röpke, P. Wieacker, S. Kliesch, 2013, European Journal of Human Genetics.

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

B. Dworniczak, A. Röpke, P. Wieacker, 2011, PloS one.

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

P Scambler, P. Scambler, M. Gessler, 1998, Human molecular genetics.

The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin.

P. Wieacker, B. Royer-Pokora, R. Willers, 2000, Molecular human reproduction.

Chimerism in a fertile woman with 46,XY karyotype and female phenotype.

P. Wieacker, F. Nawroth, S. Jakubiczka, 2001, Human reproduction.

Distribution of sex chromosomes in dysgenetic gonads of mixed type

A. Roessner, A. Röpke, P. Wieacker, 2007, Cytogenetic and Genome Research.

[XY gonadal dysgenesis (Swyer syndrome) with gonadoblastoma].

P. Wieacker, H. Schweikert, R. Schnabel, 1998, Zentralblatt fur Gynakologie.

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.

P. Wieacker, L. Wünsch, O. Hiort, 2012, European journal of endocrinology.

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

P. Wieacker, O. Hiort, G. Scherer, 2010, Human reproduction.

Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes.

A. Röpke, P. Wieacker, M. Volleth, 2004, American journal of obstetrics and gynecology.

Genetic causes of male infertility

P. Wieacker, S. Jakubiczka, 2009, Andrologia.

Bibliography of Ulrich Wolf

C. Tyler-Smith, P. Yen, K. Hirschhorn, 2001, Cytogenetic and Genome Research.

High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

R. Wegner, P. Wieacker, M. Stumm, 2001, Cytogenetic and Genome Research.

Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells.

H. Schöler, P. Pennekamp, P. Wieacker, 2011, Stem cells and development.

Fetal urinary tract obstructions: Prenatal diagnosis — prenatal and postnatal therapy

P. Wieacker, H. Schillinger, C. Wilhelm, 1991, Journal of perinatal medicine.

Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

P. Wieacker, S. Kliesch, J. Gromoll, 2010, European journal of endocrinology.

DMRT1 mutations are rarely associated with male infertility.

P. Wieacker, S. Kliesch, F. Tüttelmann, 2014, Fertility and sterility.

Cytogenetic and Molecular Genetic Investigations

P. Wieacker, M. Simoni, 2010 .

Dispermic chimerism identified during blood group determination and HLA typing

P. Wieacker, M. Heim, M. Mosebach, 2006, Transfusion.

Diseases of the Hypothalamus and the Pituitary Gland

P. Wieacker, E. Nieschlag, M. Simoni, 2010 .

Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome.

M. Gessler, P. Wieacker, S. Jakubiczka, 1993, Human molecular genetics.

Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

K. Davies, H. Ropers, R. Williamson, 1984, American journal of human genetics.

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

H. Arnold, M. Wegner, G. Camerino, 2015, Journal of Medical Genetics.

A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

R. Wanders, R. Schutgens, P. Wieacker, 1994, Journal of Inherited Metabolic Disease.

BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families

D. Horn, A. Meindl, R. Schmutzler, 2012, Clinical genetics.

Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies

P. Wieacker, H. Tönnies, M. Stumm, 1999, European Journal of Pediatrics.

Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes

P. Wieacker, M. Stumm, J. Kleinstein, 2003, Cytogenetic and Genome Research.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

J. Rosenfeld, M. Shaw, E. Haan, 2013, American journal of human genetics.

Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.

T. Wienker, P. Wieacker, G. Wolff, 1987, American journal of medical genetics.

Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

R. Ullmann, P. Wieacker, M. Volleth, 2010, Sexual Development.

Male infertility as a component of Carney complex

C. Stratakis, A. Horvath, P. Wieacker, 2007, Andrologia.

Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14

P. Wieacker, M. Volleth, M. Stumm, 2004, Cytogenetic and Genome Research.

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

K. McElreavey, P. Wieacker, J. Achermann, 2010, Sexual Development.

Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer

T. Haaf, P. Wieacker, D. Endt, 2012, Human Molecular Genetics.

Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer

A. Röpke, P. Wieacker, I. Wieland, 2005, Oncogene.

Molecular characterization of the DICE1 (DDX26) tumor suppressor gene in lung carcinoma cells.

U. Weidle, A. Röpke, P. Wieacker, 2001, Oncology research.

Prenatal diagnosis of Wiedemann-Beckwith syndrome.

P. Wieacker, C. Wilhelm, P. Greiner, 1989, Journal of perinatal medicine.

Gene mapping data – recommendations for more efficient dissemination

T. Mohandas, R. Eddy, T. Shows, 1983 .

Establishment and characterization of the permanent human cell line C3842 derived from a secondary chondrosarcoma in Ollier’s disease

R. Schneider-Stock, A. Roessner, R. Hartig, 2005, Virchows Archiv.

Array‐comparative genomic hybridization analysis in patients with Müllerian fusion anomalies

P. Hillemanns, P. Wieacker, C. Schippert, 2018, Clinical genetics.

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)

P. Wieacker, M. Volleth, I. Wieland, 2008, The application of clinical genetics.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Coffin-Siris-Syndrom Fallbericht

P. Wieacker, P. Krebs, 1998, Monatsschrift Kinderheilkunde.

P-190. FISH analysis of unfertilized human oocytes using locus-specific DNA probes

P. Wieacker, M. Stumm, J. Kleinstein, 1999 .

Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population

P. Wieacker, T. Tang, E. Ch’ng, 2017, Journal of Assisted Reproduction and Genetics.

Disorders of Androgen Target Organs

P. Wieacker, E. Nieschlag, H. Behre, 2010 .

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

A. Meindl, R. Schmutzler, M. Kiechle, 2018, BMC Cancer.

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.

J. Opitz, T. Wienker, P. Wieacker, 1985, American journal of medical genetics.

Autosomal recessive non‐immune hydrops fetalis caused by systemic lymphangiectasia

P. Wieacker, K. Pollak, P. Muschke, 2005, American journal of medical genetics. Part A.

Pathophysiology of polyhydramnios in twin transfusion syndrome.

M. Breckwoldt, P. Wieacker, H. Prömpeler, 1992, Fetal diagnosis and therapy.

The presynaptic cytomatrix protein Bassoon: sequence and chromosomal localization of the human BSN gene.

C. Garner, T. Boeckers, J. Bockmann, 1999, Genomics.

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

P. Wieacker, T. Bettecken, M. Volleth, 2007, European Journal of Pediatrics.

X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq

T. Wienker, H. Ropers, P. Wieacker, 2004, Human Genetics.

Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications

P. Wieacker, C. Thaler, N. Rogenhofer, 2017, Journal of Assisted Reproduction and Genetics.

REPRODUCTIVE ENDOCRINOLOGY AND INFERTILITY BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

A. Röpke, P. Wieacker, G. Haeusler, 2008 .

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.

A. Röpke, P. Wieacker, G. Haeusler, 2008, American journal of obstetrics and gynecology.

Mutations in WNT9B are associated with Mayer–Rokitansky–Küster–Hauser syndrome

P. Hillemanns, P. Wieacker, C. Schippert, 2016, Clinical genetics.

Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis

A. Röpke, P. Wieacker, S. Ledig, 2010, Sexual Development.

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome

K. Davies, H. Ropers, P. Wieacker, 2004, Human Genetics.

Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Clinical genetics.

Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update

P. Hillemanns, P. Wieacker, C. Schippert, 2019, Sexual Development.

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family

P. Wieacker, K. Shirneshan, S. Schulz, 2008, Prenatal diagnosis.

Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization.

A. Hartmann, M. Heinrich, C. Corless, 2007, Oncology reports.

Complete molecular remission in a patient with Philadelphia-chromosome positive acute myeloid leukemia after conventional therapy and imatinib.

P. Wieacker, A. Franke, A. Pelz, 2004, Haematologica.

Partial trisomy 9p12p21.3 with a normal phenotype

P. Wieacker, M. Volleth, I. Chudoba, 2002, Journal of medical genetics.

Menkes kinky hair disease: A search for closely linked restriction fragment length polymorphism

H. Ropers, P. Wieacker, N. Horn, 2004, Human Genetics.

Deletion of the Dm-Domain Gene Cluster in a Fetus with Ring Chromosome 9 and Sex Reversal

P. Wieacker, C. Ottolenghi, M. Stumm, 2000 .

Bcar3 Is Expressed in Sertoli Cells and Germ Cells of the Developing Testis in Mice

H. Schöler, P. Pennekamp, P. Wieacker, 2011, Sexual Development.

Expertsʼ Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency – Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No. 174/013, July 2015)

P. Oppelt, G. Binder, H. Dörr, 2015, Geburtshilfe und Frauenheilkunde.

Short communication Jumping translocation of 1q in a BCR/ABL-positive acute lymphoblastic leukemia

P. Wieacker, A. Pelz, 2005 .

X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome

T. Wienker, M. Warburg, H. Ropers, 1985, Human Genetics.

Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review.

R. Schneider-Stock, A. Agaimy, M. Evert, 2011, Human pathology.

Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues

D. Kloos, P. Wieacker, M. Wehnert, 2002, Cytogenetic and Genome Research.

Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR

P. Wieacker, I. Knoke, A. Alléra, 1999, Human Genetics.

[Prognosis of triplet pregnancies].

P. Wieacker, H. Madjar, H. Prömpeler, 1990, Geburtshilfe und Frauenheilkunde.

Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature

P. Wieacker, H. Tönnies, H. Neitzel, 2001, European Journal of Pediatrics.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

WNT4 and RSPO1 Are Not Involved in a Case of Male-to-Female Sex Reversal with Partial Duplication of 1p

P. Wieacker, M. Volleth, 2007, Sexual Development.

No evidence for deletions of the NBS1 gene in lymphomas.

R. Siebert, P. Wieacker, B. Schlegelberger, 2001, Cancer genetics and cytogenetics.

Further delineation of Wittwer syndrome and refinement of the mapping region

P. Wieacker, I. Wieland, P. Muschke, 2003, American journal of medical genetics. Part A.

Androgeninsensitivität

P. Wieacker, S. Ledig, 2011 .

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

W. Kress, P. Wieacker, S. Vielhaber, 2004, Neurogenetics.

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p

T. Liehr, P. Wieacker, M. Volleth, 2004, American journal of medical genetics. Part A.

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb

H. Heinze, M. Sailer, P. Wieacker, 2002, Muscle & nerve.

The prenatal diagnosis of genetic diseases.

P. Wieacker, J. Steinhard, 2010, Deutsches Arzteblatt international.

Cyclic administration of an LHRH analogue and of progesterone in risk patients to oral contraceptives.

M. Breckwoldt, P. Wieacker, D. Jenne, 1987, Contraception.

Novel and Recurrent Mutations in Patients with Androgen Insensitivity Syndromes

P. Wieacker, J. Neulen, C. Brewer, 2005, Hormone Research in Paediatrics.

Preferential Inactivation of a dupX(q23 → q27–28) Chromosome in a Girl with Mental Retardation and Dysmorphy

V. Kalscheuer, P. Wieacker, M. Volleth, 2001, Human Heredity.

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

A. Röpke, P. Wieacker, O. Hiort, 2006, The Journal of Steroid Biochemistry and Molecular Biology.

Intrafamilial phenotypic variability of Specific Language Impairment

L. Bartha-Doering, D. Deuster, A. Röpke, 2016, Brain and Language.

Hirsutism, its pathogenesis.

M. Breckwoldt, P. Wieacker, H. Zahradnik, 1989, Human reproduction.

Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome

T. Wienker, K. Davies, H. Ropers, 2004, Human Genetics.

Cloning of Z39Ig, a novel gene with immunoglobulin-like domains located on human chromosome X.

D. Kloos, P. Wieacker, L. Colleaux, 2000, Biochimica et biophysica acta.

High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements

P. Wieacker, M. Stumm, A. Pelz, 2002, Annals of Hematology.

Re-analysis of the cell line NALM-1 karyotype by GTG-banding, spectral karyotyping, and whole chromosome painting.

P. Wieacker, A. Pelz, Gisela Weilepp, 2005, Cancer genetics and cytogenetics.

Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients

T. Eggermann, P. Wieacker, I. Kurth, 2018, Molecular genetics & genomic medicine.

Mapping of a further locus for X-linked craniofrontonasal syndrome

P. Wieacker, I. Wieland, M. Krawczak, 2003, Cytogenetic and Genome Research.

Whole chromosome painting detects an increased frequency of non specific translocations in homozygotes and heterozygotes of the human radiosensitivity syndromes Ataxia telangiectasia and Nijmegen breakage syndrome

P. Wieacker, M. Stumm, S. Neubauer, 1999 .

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome

A. Röpke, P. Wieacker, W. Zumkeller, 2004, Prenatal diagnosis.

Novel chromosomal aberrations in a recurrent malignant meningioma.

M. Skalej, C. Mawrin, E. Kirches, 2007, Cancer genetics and cytogenetics.

Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease

P. Wieacker, H. Tönnies, M. Stumm, 1999, European Journal of Pediatrics.

Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the DXS1 segment

T. Wienker, M. Breckwoldt, J. Griffin, 1987, Human Genetics.

Clinical and molecular aspects of androgen receptor defects

P. Wieacker, S. Jakubiczka, I. Knoke, 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Disorders of Prenatal Sexual Development

P. Wieacker, 2006 .

Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis

P. Wieacker, V. Harley, G. Scherer, 2010, Sexual Development.

Partial monosomy 2p as the single chromosomal anomaly in a case of renal metanephric adenoma.

P. Wieacker, H. Tönnies, M. Stumm, 1999, Cancer genetics and cytogenetics.

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

A. Meindl, R. Schmutzler, M. Kiechle, 2018, BMC Cancer.

Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review.

R. Schneider-Stock, A. Agaimy, M. Evert, 2011, Human pathology.

DMRT1 mutations are rarely associated with male infertility.

P. Wieacker, S. Kliesch, F. Tüttelmann, 2014, Fertility and sterility.

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.

P. Wieacker, L. Wünsch, O. Hiort, 2012, European journal of endocrinology.

Pseudotrisomy 13: Clinical Findings and Genetic Implications

C. Mawrin, P. Wieacker, T. Kalinski, 2005, Fetal Diagnosis and Therapy.

Mutations of the androgen receptor gene in patients with complete androgen insensitivity

P. Wieacker, G. Wolff, S. Jakubiczka, 1997, Human mutation.

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

F. Darendeliler, P. Wieacker, I. Hughes, 2013, The Journal of clinical endocrinology and metabolism.

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. – Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele

H. Rehder, P. Wieacker, R. Schmitz, 2013, Prenatal diagnosis.