I. Thomas

发表

Williams syndrome: autosomal dominant inheritance.

C. Morris, F. Greenberg, I. Thomas, 1993, American journal of medical genetics.

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

E. Zackai, N. Spinner, K. Woodward, 2000, American journal of human genetics.

Isolated and syndromic cryptophthalmos.

J. Frías, M. Jones, I. Thomas, 1986, American journal of medical genetics.

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.

David W. Smith, D. W. Smith, D. Weaver, 1974, The Journal of pediatrics.

New methods for quantitative and qualitative facial studies: an overview.

R. J. Hintz, J. Frías, I. Thomas, 1989, Journal of craniofacial genetics and developmental biology.

Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunoglobulinemia E, and recurrent infections.

H. Ochs, S. Pincus, R. Clark, 1975, The Journal of pediatrics.

Oligohydramnios, cause of the nonrenal features of Potter's syndrome, including pulmonary hypoplasia.

I. Thomas, D. W. Smith, D. W. Smith, 1974, The Journal of pediatrics.

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism.

E. S. Cantú, J. Frías, D. Flannery, 1989, American journal of human genetics.

Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation

E. S. Cantú, J. Frías, I. Thomas, 1989, Clinical genetics.

De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts.

M. Pettenati, I. Thomas, R. Weaver, 1991, American journal of medical genetics.

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

J. Weissenbach, J. Prud'homme, J. Fischer, 2000, American journal of human genetics.

Magnetic resonance imaging in the assessment of medullary compression in achondroplasia.

W. Friedman, J. Frías, I. Thomas, 1988, American journal of diseases of children.

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

N. Rao, M. Pettenati, I. Thomas, 1992, Human Genetics.

The cardiovascular manifestations of genetic disorders of collagen metabolism.

J. Frías, I. Thomas, 1987, Annals of clinical and laboratory science.

Radiographic features of craniometadiaphyseal dysplasia, wormian bone type

J. Frías, I. Thomas, L. Langer, 2004, Skeletal Radiology.

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

P. N. Rao, M. McMahan, M. Pettenati, 1993, American journal of medical genetics.

The heart in selected congenital malformations. A lesson in pathogenetic relationships.

J. Frías, I. Thomas, 1987, Annals of clinical and laboratory science.

Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.

P. N. Rao, L. Teot, M. Pettenati, 1993, American journal of medical genetics.

Palpebral fissure length from 29 weeks gestation to 14 years.

J. Frías, I. Thomas, Y. A. Gaitantzis, 1987, The Journal of pediatrics.

The prospective management of cervicomedullary compression in achondroplasia.

J. Frías, I. Thomas, 1989, Birth defects original article series.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.

P. N. Rao, M. Pettenati, T. Jewett, 1993, American journal of medical genetics.

HYPOMELANOSIS OF ITO AND CHROMOSOMAL MOSAICISM IN FIBROBLASTS

H. Rott, E. Haneke, I. Thomas, 1986, The Lancet.

Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

D. Watkins, D. Rosenblatt, R. Erbe, 1987, American journal of medical genetics.

Teratogens and teratogenesis: general principles of clinical teratology.

J. Frías, I. Thomas, 1988, Annals of clinical and laboratory science.