N. Carpenter

发表

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

R. Stevenson, C. Schwartz, H. Lubs, 2005, American journal of human genetics.

Down syndrome phenotypes: the consequences of chromosomal imbalance.

C. Disteche, X. Chen, J. Korenberg, 1994, Proceedings of the National Academy of Sciences of the United States of America.

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

M. Gerstein, Fabian Grubert, L. Shaffer, 2009, Proceedings of the National Academy of Sciences.

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

E. Zackai, Soma Das, A. Toutain, 2004, Human mutation.

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

P. Pearson, J. Connor, N. Carpenter, 1987, American journal of human genetics.

A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.

T. Gilliam, M. Hayden, T. Bonner, 1987, Genomics.

Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus.

D. Skarecky, U. Bengtsson, N. Carpenter, 1988, American journal of human genetics.

Longitudinal changes in cognitive-behavioral levels in three children with FRAXE.

B. Hamel, A. Smits, G. Fisch, 1999, American journal of medical genetics.

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum.

V. Proud, N. Carpenter, C. Levine, 1992, American journal of medical genetics.

Metacarpophalangeal pattern profile analysis in fragile X syndrome.

M. Butler, N. Carpenter, F. Meaney, 1988, American journal of medical genetics.

Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles.

A. Pandya, G. Fisch, W. Nance, 1999, American journal of medical genetics.

Carpenter-Waziri syndrome results from a mutation in XNP.

C. Schwartz, F. Abidi, L. Villard, 1999, American journal of medical genetics.

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis.

G. Fisch, N. Carpenter, R. Simensen, 1996, American journal of medical genetics.

Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6.

E. Jabs, N. Carpenter, 1988, American journal of human genetics.

An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.

N. Carpenter, B. Say, F. Hommes, 1992, Journal of medical genetics.

Technical pitfalls encountered in PCR quantification using microsatellites.

N. Carpenter, L. Whetsell, Y. Qu, 1997, Genetic testing.

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

C. Wadelius, S. Kenwrick, A. Fryer, 1995, American journal of human genetics.

Diagnosis of Microdeletion Syndromes: High‐Resolution Chromosome Analysis Versus Fluorescence In Situ Hybridization

N. Carpenter, H. Roop, V. G. GOPAL RAO, 1995, The American journal of the medical sciences.

Gonadal function in men with the Martin-Bell (fragile-X) syndrome.

N. Carpenter, C. Migeon, G. Berkovitz, 1986, American journal of medical genetics.

Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation.

G. Fisch, N. Carpenter, R. Simensen, 1994, American journal of medical genetics.

The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.

P. Pearson, N. Carpenter, H. Veenema, 1987, Journal of medical genetics.

Report of a case resembling the Proteus syndrome with a chromosome abnormality.

N. Carpenter, B. Say, 1988, American journal of medical genetics.

A homozygote for pericentric inversion of chromosome 4.

N. Carpenter, B. Say, N. Barber, 1982, Journal of medical genetics.

Maternal serum free beta hCG screening: Results of studies including 480 cases of down syndrome

K. Spencer, N. Carpenter, F. Muller, 1994, Prenatal diagnosis.

Hela marker chromosomes in human breast tumors: Proposal about the origin of the hela cell line

D. Krizman, S. Pathak, N. Carpenter, 1987 .

THYMIDYLATE SYNTHETASE IN MUTANTS OF DROSOPHILA MELANOGASTERI

N. Carpenter, 2003 .

Properties and inhibition of thymidylate synthetase in Drosophila melanogaster.

N. Carpenter, 1974, Journal of insect physiology.

Thymidylate synthetase in mutants of Drosophila melanogaster.

N. Carpenter, 1973, Genetics.

Chromosome variants in children with psychiatric disorders.

N. Carpenter, B. Say, J. Coldwell, 1977, The American journal of psychiatry.

Genital malformations in a child with VATER association.

N. Carpenter, E. I. Smith, B. Say, 1979, American journal of diseases of children.

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

J. Fryns, U. Froster-Iskenius, T. Glover, 1991, American journal of medical genetics.

Molecular cytogenetics

N. Carpenter, N J Carpenter, 2001, Seminars in pediatric neurology.

Multilocus analysis of the fragile X syndrome

C. Schwartz, W. Brown, M. Krawczak, 1988, Human Genetics.

Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16.

R. Blaese, N. Carpenter, A. Filipovich, 1988, The Journal of pediatrics.

Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.

J. Steyaert, J. Fryns, G. Fisch, 1999, American journal of medical genetics.

Partial trisomy 13q identified by sequential fluorescence in situ hybridization.

N. Carpenter, V. Rao, B. Say, 1995, American journal of medical genetics.

A. Pandya, G. Fisch, W. Nance, 1999, American journal of medical genetics.

Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31.

J. Miles, N. Carpenter, 1991, American journal of medical genetics.

Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+).

N. Carpenter, G. Giacoia, B. Say, 1980, Journal of medical genetics.

Pulmonary agenesis: importance of detailed cytogenetic studies.

N. Carpenter, B. Say, 1998, American journal of medical genetics.

Agenesis of the lung associated with a chromosome abnormality ( 46 , XX , 2 p + ) SUMMARY

N. Carpenter, G. Giacoia, S. Jegathesan, 2022 .

A Condition Resembling Congenital Hypoplastic Anemia Occurring in a Mother and Son

N. Carpenter, B. Say, Greta McFarland, 1982, La Clinica pediatrica.

The course of cognitive‐behavioral development in children with the FMR1 mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender

G. Fisch, N. Carpenter, R. Simensen, 2010, American journal of medical genetics. Part A.

Lack of association between mutation size and cognitive/behavior deficits in fragile X males: a brief report.

G. Fisch, N. Carpenter, R. Simensen, 1996, American journal of medical genetics.

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families

D. Hill, A. Chapelle, K. Davies, 2004, Human Genetics.

Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.

A. Battaglia, G. Fisch, N. Carpenter, 2012, American journal on intellectual and developmental disabilities.

Linkage and risk assessment in fragile X families using new DNA probes at Xq27.

N. Carpenter, J. Prichard, T. Lam, 1992, American journal of medical genetics.

Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

N. Carpenter, B. Say, L. Leichtman, 1982, American journal of diseases of children.

Molecular Diagnosis of X-Linked Disorders

N. Carpenter, H. Veenema, E. Bakker, 1987 .

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

N. Carpenter, B. Say, D. Browning, 1980, Journal of medical genetics.

Diversity of cystic fibrosis mutation-screening practices.

W. Grody, R. Desnick, N. Carpenter, 1998, American journal of human genetics.

Familial deletion of chromosome 18 (p11.2).

N. Carpenter, G. Velagaleti, B. Say, 1996, Annales de genetique.

Genetic Anticipation: Expanding Tandem Repeats

N. Carpenter, Nancy J. Carpenter, 1994 .

X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.

S. Patil, N. Carpenter, Y. Qu, 1999, American journal of medical genetics.

Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.

C. Gunter, A. Reiss, S. Warren, 2000, American journal of human genetics.

Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders

G. Fisch, W. Nance, N. Carpenter, 2007, American journal of medical genetics. Part A.

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

N. Carpenter, B. Say, L. Leichtman, 1981, Journal of medical genetics.

Down syndrome due to 21;21 translocation in a male twin

N. Carpenter, D. Morgan, B. Say, 1979, Clinical genetics.

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2006, American journal of human genetics.

Pelizaeus-Merzbacher disease: clinical and DNA-linkage study of an extended family.

V. P. Johnson, N. Carpenter, K. Kelts, 1991, American journal of medical genetics.

Refined gene localization for the Miles-Carpenter syndrome (MCS)

C. Schwartz, J. Miles, N. Carpenter, 1999, American journal of medical genetics.

DNA linkage analysis of 26 families with fragile X syndrome.

N. Carpenter, 1991, American journal of medical genetics.

Martin-Bell syndrome segregating in a large kindred with normal transmitting males: clinical, cytogenetic, and linkage study.

V. P. Johnson, N. Carpenter, P. A. Skorey, 1991, American journal of medical genetics.

Anterior sacral meningocele.

N. Carpenter, B. Say, J. Coldwell, 1977, JAMA.

Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus.

S. Thibodeau, W. Brown, N. Carpenter, 1991, American journal of medical genetics.

Linkage Disequilibrium Analysis in a Recently Founded Population : Evaluation of the Variegate Porphyria Founder in South African Afrikaners

W. Grody, R. Desnick, N. Carpenter, 2007 .

Deletion 15q2l1->q22 1 resulting from a paternal insertion into chromosome 5

M. Selikowitz, N. Carpenter, S. Purvis-Smith, 2022 .

Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2.

W. Brown, N. Carpenter, K. L. Keenan, 1999, American journal of medical genetics.

A new DNA probe proximal to and closely linked to fragile X.

P. Pearson, N. Carpenter, H. Veenema, 1987, American journal of medical genetics.

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

N. Carpenter, B. Say, D. Browning, 1980, Journal of medical genetics.

Bilateral ankylosed thumbs and mental retardation.

N. Carpenter, B. Say, N. Barber, 1990, American journal of medical genetics.