L. Weiss

发表

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

C. Schwartz, S. Colman, M. Wallace, 1998, Journal of medical genetics.

Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

D. Harris, L. Weiss, J. Overhauser, 1995, American journal of human genetics.

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.

B. Migeon, J. Axelman, P. Jacobs, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.

B. Tycko, L. Weiss, L. Weiss, 1997, American journal of human genetics.

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

J. Uitto, F. Bullrich, L. Weiss, 1997, American journal of human genetics.

Inverted duplication of 8p: ten new patients and review of the literature.

G. Feldman, L. Weiss, R. Schroer, 1993, American journal of medical genetics.

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

H. Saal, L. Weiss, F. Petrij, 2000, American journal of medical genetics.

deletions in neurofibromatosis type 1 . Constitutional and mosaic large NF 1 gene

C. R. Abernathy, C. Schwartz, S. Colman, 2022 .

Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

L. Weiss, C. Jackson, W. Reynolds, 1976, The Journal of pediatrics.

Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

P. Ray, L. Weiss, R. Worton, 1990, Journal of medical genetics.

The physicochemical properties of hair in the BIDS syndrome.

L. Weiss, C. Jackson, H. Baden, 1976, American journal of human genetics.

"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred.

L. Weiss, C. Jackson, J. Watson, 1974, Pediatrics.

Chromosomal evidence for the secondary role of fibroblastic proliferation in acute myelofibrosis.

L. Weiss, E. V. Van Slyck, M. Dully, 1970, Blood.

Ring 1 chromosome and dwarfism--a possible syndrome.

L. Weiss, C. Wolf, J. A. Peterson, 1967, The Journal of pediatrics.

Malformation syndrome of duplication 12q24.1→qter

J. Opitz, L. Weiss, D. Dyke, 1981 .

Malformation syndrome of duplication 12q24.1 leads to qter.

L. Weiss, D. V. Van Dyke, A. Melnyk, 1981, American journal of medical genetics.

Location of the X inactivation center in primates and other mammals

L. Weiss, W. Flejter, D. Dyke, 1986, Human Genetics.

The centromere index and relative length of human high-resolution G-banded chromosomes

L. Weiss, M. Worsham, D. Dyke, 1986, Human Genetics.

Duplication and deletion 11q23-q24 recombinants in two offspring of an intrachromosomal insertion ("shift") carrier.

L. Weiss, D. V. Van Dyke, M. Worsham, 1988, Henry Ford Hospital medical journal.

Tumor behavior in transitional cell carcinoma of the bladder in relation to chromosomal markers and histopathology.

B. Miles, L. Weiss, D. V. Van Dyke, 1987, Cancer research.

The origin and behavior of two isodicentric bisatellited chromosomes.

L. Weiss, D. V. Van Dyke, G. Pai, 1977, American journal of human genetics.

Familial papillary carcinoma of the thyroid.

L. Weiss, D. V. Van Dyke, J. Bach, 1986, American journal of medical genetics.

Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner's syndrome.

L. Weiss, 1971, Journal of medical genetics.

Hyperreactivity to cow's milk in an infant with LE and tart cell phenomenon.

J. Anderson, L. Weiss, L. Cabal, 1974, The Journal of pediatrics.

Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant.

L. Weiss, D. V. Van Dyke, A. Gaba, 1987, American journal of medical genetics.

Stable ring chromosome 21: molecular and clinical definition of the lesion.

S. Pulst, J. Korenberg, D. Marshak, 1992, American journal of medical genetics.

Familial C-G translocation causing mitotic nondisjunction. A cause of familial mosaic Down's syndrome.

L. Weiss, C. Wolf, 1968, American journal of diseases of children.

Molecular characterization of de novo secondary trisomy 13.

L. Shaffer, L. Weiss, K. Choo, 1994, American journal of human genetics.

The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm.

L. Weiss, D. V. Van Dyke, M. Miller, 1983, American journal of medical genetics.

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

M. Daly, J. Korn, J. Thakuria, 2008, Journal of Medical Genetics.

The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history.

Golder N Wilson, B. Tilley, L. Weiss, 1990, American journal of human genetics.

Mental retardation in Turner syndrome.

L. Weiss, D. V. Van Dyke, A. Wiktor, 1991, The Journal of pediatrics.

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.

D. Miller, L. Weiss, D. V. Van Dyke, 1992, American journal of medical genetics.

Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.

L. Weiss, D. V. Van Dyke, J. Roberson, 1993, American journal of medical genetics.

Mother and son with deletion of 3p25-pter.

L. Weiss, D. V. Van Dyke, J. Roberson, 1991, American journal of medical genetics.

Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts

L. Weiss, D. V. Van Dyke, M. Tyrkus, 1989, Prenatal diagnosis.

Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12.

L. Weiss, R. Lindahl, K. Mayeda, 1974, American journal of human genetics.

Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

S. Schwartz, H. Willard, L. Weiss, 1997, Human Genetics.

Maternal effect on intelligence in fragile X males and females.

L. Weiss, D. V. Van Dyke, 1986, American journal of medical genetics.

Congenital adrenal hypoplasia--an X-linked disease.

L. Weiss, R. Mellinger, 1970, Journal of medical genetics.

The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age.

L. Weiss, D. V. Van Dyke, J. Roberson, 1983, American journal of human genetics.

Duplication 6q21q23 in two unrelated patients.

L. Weiss, V. Pratt, D. V. Van Dyke, 1998, American journal of medical genetics.

X-inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence.

L. Weiss, D. V. Van Dyke, A. Wiktor, 1993, American journal of medical genetics.

Ring chromosome 6: Case report and review of literature

L. Weiss, K. R. Kini, D. Dyke, 2004, Human Genetics.

Toriello-Carey syndrome: evidence for X-linked inheritance.

D. Lacombe, L. Weiss, P. Czarnecki, 1996, American journal of medical genetics.

A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres.

D. Miller, L. Weiss, D. V. Van Dyke, 1989, American journal of human genetics.

Bends in human mitotic metaphase chromosomes, including a bend marking the X-inactivation center.

L. Weiss, W. Flejter, D. V. Van Dyke, 1984, American journal of human genetics.

A patient with a short arm deletion of chromosome 18 (46,XY,18p-).

L. Weiss, K. Mayeda, 1969, Journal of medical genetics.

Multiple active X chromosomes in myelofibrosis with myeloid metaplasia.

L. Weiss, D. V. Van Dyke, D. Dyke, 1981, Cancer genetics and cytogenetics.

Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.

P. Papenhausen, L. Weiss, E. S. Cantú, 1996, Journal of medical genetics.

Prenatal diagnosis of Maroteaux-Lamy syndrome.

L. Weiss, A. Fluharty, D. V. Van Dyke, 1981, American journal of medical genetics.

Autosomal dominant crystalline dystrophy.

J. R. Ferencz, Julian J. Nussbaum, L. Weiss, 1991, Ophthalmology.

Asymmetric skeletal anomalies in siblings

L. Weiss, D. Dyke, S. Ruby, 1984, Clinical genetics.

A prospective study of 92 bladder cancer patients: Cytogenetics, histopathology, and tumor behavior

B. Miles, L. Weiss, J. Crissman, 1989 .

Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).

L. Weiss, D. V. Van Dyke, A. Wiktor, 1993, American journal of medical genetics.

Culture and karyotyping of amniotic fluid cells

L. Weiss, M. Worsham, D. Dyke, 1980 .

Thyroid abnormalities in 20 children with Turner syndrome.

L. Weiss, C. Wolf, D. V. Van Dyke, 1977, The Journal of pediatrics.

Case report 509

L. Weiss, S. Kottamasu, M. E. Katz, 2004, Skeletal Radiology.

Mesodermal Induction Defect as a Possible Cause of Ear Malformations

L. Weiss, A. Melnyk, 1983 .

Parental age, and how extra isochromosomes (secondary trisomy) arise

L. Weiss, D. Dyke, V. Babu, 1987, Clinical genetics.

Cytogenetic study of four cancers of the prostate.

B. Miles, L. Weiss, J. Cerny, 1990, Cancer genetics and cytogenetics.

Cytogenic studies of cryptorchid testes.

L. Weiss, D. V. Van Dyke, R. Klugo, 1978, Urology.

WHEN ARE ANEUPLOID CELLS CLINICALLY SIGNIFICANT?

Golder N Wilson, L. Weiss, G. Nowinski, 1984, Pediatric Research.

Brief Clinical Report : Duplication 3 p 21-3 pter and Cyclopia

L. Weiss, D. Dyke, D. N. Kurtzman, 2005 .

Duplication 3p21----3pter and cyclopia.

L. Weiss, D. V. Van Dyke, D. N. Kurtzman, 1987, American journal of medical genetics.

The Karyotype of the Mongolian Gerbil, Meriones unguiculatus

L. Weiss, K. Mayeda, M. Dully, 1970 .

The human inactivated X chromosome folds in early metaphase, prometaphase, and prophase

L. Weiss, M. Worsham, D. Dyke, 1987, Human Genetics.