S. Stengel-Rutkowski

发表

A familial deletion in the Prader‐Willi syndrome region including the imprinting control region

T. Meitinger, S. Schuffenhauer, K. Buiting, 1996, Human mutation.

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

D. Warburton, E. Roeder, R. Hennekam, 1998, Nature Genetics.

Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome.

C. Williams, J. Graham, J. Carey, 1993, American journal of medical genetics.

Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing

M. Nöthen, T. Eggermann, H. Engels, 1996, Human Genetics.

A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)

A. Dufke, K. Eggermann, H. Enders, 2001, Cytogenetic and Genome Research.

Experiences with risk estimates for carriers of chromosomal reciprocal translocations

J. Stene, A. Midro, S. Stengel-Rutkowski, 1992, Clinical genetics.

Further delineation of the branchio-oculo-facial syndrome.

H. Brunner, R. Gorlin, A. Lin, 1995, American journal of medical genetics.

[Gonadal dysgenesis with an unusual structural anomaly in an X chromosome (45,X-46,XXq+)].

W. Nocke, S. Stengel-Rutkowski, A. Dollmann, 1972, Humangenetik.

Bibliography of Ulrich Wolf

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

Prenatal diagnosis of partial monosomy 4p

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

Aspermia, associated with a presumably balanced X/autosomal translocation

K. Zang, H. Zankl, J. Chaudhuri, 1976, Human Genetics.

KLINEFELTER'S SYNDROME IN A FETUS

K. Remberger, J. Murken, S. Stengel-Rutkowski, 1974 .

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

A. Jauch, T. Meitinger, T. Strom, 2011, European journal of medical genetics.

New chromosomal dysmorphic syndromes

B. Dutrillaux, R. Bassermann, J. Murken, 1979, European Journal of Pediatrics.

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

J. Egger, M. Schildhauer, F. Baumeister, 1993, Clinical genetics.

A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects

J. Stene, S. Stengel-Rutkowski, E. Stene, 1987, Human Genetics.

Paternal age and Down's syndrome data from prenatal diagnoses (DFG)

J. Stene, J. Murken, S. Stengel-Rutkowski, 2004, Human Genetics.

Anthropometric definitions of dysmorphic facial signs

S. Stengel-Rutkowski, P. Schimanek, A. Werheimer, 2004, Human Genetics.

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates

A. Warkotsch, S. Stengel-Rutkowski, J. Stene, 1984, Clinical genetics.

Genetic risks for familial reciprocal translocations with special emphasis on those leading to 9p, 10p and 12p trisomies

S. Stengel-Rutkowski, J. Stene, Jon Stene, 1982, Annals of human genetics.

Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: experiences with dysmorphic syndromes

Lothar Gierl, S. Stengel-Rutkowski, L. Gierl, 1994, Artif. Intell. Medicine.

The fragile-X phenotype. Computer assisted analysis of the dysmorphological features and discrimination from the Sotos phenotype.

R. Fahsold, B. Schmalenberger, S. Stengel-Rutkowski, 1993, Genetic counseling.

Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome.

J. Pilch, P. Iwanowski, S. Stengel-Rutkowski, 2005, Genetic counseling.

Quantitative electronic analysis of chromosome autoradiographs using a television image analysing computer.

H Gundlach, K. Zang, S Stengel-Rutkowski, 1974, Experimental cell research.

New chromosomal dysmorphic syndromes

J. Murken, M. Zankl, A. Rodewald, 1981, European Journal of Pediatrics.

[Prenatal diagnosis in parents with a balanced structural chromosome aberration (author's transl)].

C. Krauss, A. Wirtz, S. Stengel-Rutkowski, 1980, Geburtshilfe und Frauenheilkunde.

The dermatoglyphic pattern of the trisomy 10p syndrome

A. Rodewald, S. Stengel-Rutkowski, 1978, Clinical genetics.

Mulibrey nanism

K. Boergen, C. Döhlemann, S. Stengel-Rutkowski, 1995, Clinical dysmorphology.

Observations with G banding of human chromosomes

J. Murken, S. Stengel-Rutkowski, J. Walther, 1974, Humangenetik.

New chromosomal malformation syndromes

H. Cleve, A. Rodewald, S. Stengel-Rutkowski, 1977, European Journal of Pediatrics.

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk

J. Couturier, B. Belohradsky, C. Herzog, 1992, Clinical genetics.

New chromosomal dysmorphic syndromes

J. Murken, H. Spiess, A. Rodewald, 1977, European Journal of Pediatrics.

Observations with G bonding of human chromosomes. Reduction of dye concentration in Soerensen buffered solutions is sufficient for demonstrating G bands.

J. Murken, S. Stengel-Rutkowski, J. U. Walther Walther, 1974, Humangenetik.

Risk for short arm 10 trisomy

S. Stengel-Rutkowski, J. Stene, 1977, Human Genetics.

Routine G-banding in prenatal diagnosis of chromosomal disorders

J. Murken, A. Wirtz, S. Stengel-Rutkowski, 1976, Human Genetics.

Klinefelter’s Syndrome in Prenatal Diagnosis: Incidence and Consequences for Genetic Counselling

J. Murken, S. Stengel-Rutkowski, 1984 .

45, X Constitution in a H‐Y antigen positive boy with partial monosomy 5p

K. Miller, H. Seidel, S. Stengel-Rutkowski, 1981, Clinical genetics.

Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction

T. Eggermann, H. Engels, G. Schwanitz, 1997, European journal of human genetics : EJHG.

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.

V. Emiliani, T. Eggermann, H. Engels, 1999, Annales de genetique.

Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12 → q13.3) inherited from the mother

S. Schuffenhauer, O. Genzel‐Boroviczény, M. Cohen, 1996, Clinical genetics.

Reproduction in a female patient with Down's syndrome

K. Zang, S. Scharrer, S. Stengel-Rutkowski, 1975, Humangenetik.

Childhood hypertrichosis: diagnosis and management.

F. Baumeister, S. Stengel-Rutkowski, H. Schwarz, 1995, Archives of disease in childhood.

Knowledge Acquisition for Scheme-Based Medical Expert Systems: The Dysmorphic Syndrome Example

L. Gierl, S. Stengel-Rutkowski, K. Lohse, 1988 .