C. Tuck-Muller

发表

Studies of mitotic and centromeric abnormalities in Roberts syndrome: Implications for a defect in the mitotic mechanism

E. Jabs, J. B. Rattner, C. Tuck-Muller, 1991, Chromosoma.

Fertility and the cri du chat syndrome

W. Wertelecki, C. Tuck-Muller, José E. Martínez, 1993, Clinical genetics.

Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome.

M. Ehrlich, A. Narayan, D. Smeets, 2000, Mutation research.

Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13).

W. Hoffman, C. Tuck-Muller, R. Bassali, 1997, American journal of medical genetics.

Cancer susceptibility in ataxia-telangiectasia.

J. D. Funkhouser, R. Gatti, J. Funkhouser, 1992, Leukemia.

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome

P. Maertens, W. Wertelecki, Yue-ying Wang, 2006, American journal of medical genetics. Part A.

Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity.

M. C. Rogers, J. Fackler, M. Tarpey, 1988, The New England journal of medicine.

Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel

J. Korenberg, Shibo Li, G. Stetten, 2001, Genetics in medicine : official journal of the American College of Medical Genetics.

NOR associations with heterochromatin.

J. Bennett, M. Varela, C. Tuck-Muller, 1984, Cytogenetics and cell genetics.

A kidney epithelial cell line from a bolivian squirrel monkey

J. King, C. Moore, J. Scammell, 2002, In Vitro Cellular & Developmental Biology - Animal.

De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland.

H. Chen, W. Hoffman, C. Tuck-Muller, 1995, American journal of medical genetics.

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization.

D. Batista, W. Wertelecki, H. Chen, 1995, American journal of medical genetics.

Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature

Shibo Li, D. Batista, Harold Chen, 1995, Human Genetics.

DNA hypomethylation and unusual chromosome instability in cell lines fromICF syndrome patients

M. Ehrlich, E. Fiala, A. Narayan, 2000, Cytogenetic and Genome Research.

SRVX, a sex reversing locus in Xp21.2→p22.11

S. Wachtel, Shibo Li, P. Arn, 1994, Human Genetics.

Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).

W. Wertelecki, C. Tuck-Muller, P. Dyken, 1995, American journal of medical genetics.

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

P. Pearson, D. Batista, G. Stetten, 1993, Human Genetics.

Duplication of the short arm of the X chromosome in mother and daugther

D. Batista, W. Kearns, W. Wertelecki, 1993, Human Genetics.

A rapid method for PCR amplification of DNA directly from cells fixed in Carnoy's fixative.

W. Wertelecki, C. Tuck-Muller, H. Chen, 1995, American journal of medical genetics.

Analysis of marker or complex chromosomal rearrangements present in pre‐ and post‐natal karyotypes utilizing a combination of G‐banding, spectral karyotyping and fluorescence in situ hybridization

F. Yang, C. Tuck-Muller, A. Johnson, 2003, Clinical genetics.

Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells

D. Gisselsson, M. Ehrlich, D. Smeets, 2005, Chromosoma.

High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample

M. Ehrlich, F. Tsien, V. Blackman, 2001, Journal of medical genetics.

Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies.

E. Jabs, W. Earnshaw, R. Wise, 1993, Cytogenetics and cell genetics.

Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)].

I. Maumenee, C. Tuck-Muller, P. D. Reese, 1987, Archives of ophthalmology.

1p microdeletion in sibs with minimal phenotypic manifestations.

W. Wertelecki, W. Gasparrini, C. Tuck-Muller, 1999, American journal of medical genetics.

Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).

W. Wertelecki, C. Tuck-Muller, J. Martínez, 1998, American journal of medical genetics.

Chromosome studies in 10 patients with the Rett syndrome.

G. Thomas, S. Naidu, J. Moore, 1986, American journal of medical genetics. Supplement.

Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene

E. Jabs, H. Youssoufian, C. Tuck-Muller, 1988, Human Genetics.

Adrenal insufficiency in Smith-Lemli-Opitz syndrome.

H. Andersson, J. Frentz, C. Tuck-Muller, 1999, American journal of medical genetics.

Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation

B. Migeon, J. Axelman, D. Dungy, 1995, Somatic cell and molecular genetics.

Short Communication: An HLA‐Haplotype Associated With Preeclampsia and Intrauterine Growth Retardation

K. Peevy, C. Hoff, J. Spinnato, 1994 .

Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture media

G. Thomas, C. Tuck-Muller, L. Reynolds, 1989, Journal of Inherited Metabolic Disease.

Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.

S. Antonarakis, K. Blakemore, G. Stetten, 1990, Molecular biology & medicine.

Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts.

Shibo Li, W. Wertelecki, C. Tuck-Muller, 2002, American journal of medical genetics.

FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation.

W. Wertelecki, C. Tuck-Muller, X. Mu, 2000, Southern medical journal.

A complex five breakpoint intrachromosomal rearrangement ascertained through two recombinant offspring.

M. Varela, G. Pridjian, W. Wertelecki, 1994, American journal of medical genetics.

An HLA-haplotype associated with preeclampsia and intrauterine growth retardation.

K. Peevy, C. Hoff, J. Spinnato, 1994, American Journal of Reproductive Immunology.

Confirmation of proximal 1q duplication using fluorescence in situ hybridization.

W. Wertelecki, H. Chen, C. Tuck-Muller, 1994, American journal of medical genetics.