J. Fox

发表

Infant with mos45,x/46,XY/47,XYY/48,XYYY: genetic and clinical findings.

S. Freedman, R. Pleak, D. Blumenthal, 1994, American journal of medical genetics.

Common Issues in Prenatal Diagnosis

M. Mahoney, M. Dimaio, J. Fox, 2010 .

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

J. Rosenfeld, L. Shaffer, B. Ballif, 2015, American journal of medical genetics. Part A.

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency☆

S. O’Rahilly, I. Farooqi, P. Papenhausen, 2013, Molecular genetics and metabolism.

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.

W. Sly, E. Kakkis, J. Fox, 2015, Molecular genetics and metabolism.

Identification of new markers in Xp21 between DXS28 (C7) and DMD.

A. Ballabio, K. Worley, J. Towbin, 1992, Genomics.

DNA analysis for ornithine transcarbamylase deficiency

R. Rozen, A. Horwich, W. Fenton, 1986, Journal of Inherited Metabolic Disease.

Four sibs with arterial tortuosity: description and review of the literature.

B. Pletcher, T. Cohen, R. Boxer, 1996, American journal of medical genetics.

Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs.

J. Hershey, J. Fox, A. Heimler, 1991, American journal of medical genetics.

Fetal Infection and Teratogens

M. Mahoney, M. Dimaio, J. Fox, 2010 .

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus

R. Rozen, A. Horwich, W. Fenton, 1985, Nature.

Expression of amplified DNA sequences for ornithine transcarbamylase in HeLa cells: arginine residues may be required for mitochondrial import of enzyme precursor

A. Horwich, W. Fenton, I. Mellman, 1985, The Journal of cell biology.

Prenatal diagnosis of trisomy 4 mosaicism.

J. Willner, D. Blumenthal, J. Fox, 2000, American journal of medical genetics.

Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.

S. Brusilow, R. Rozen, W. Fenton, 1986, The New England journal of medicine.

Abnormal Ultrasound Findings

M. Mahoney, M. Dimaio, J. Fox, 2010 .

Trisomy 18 with Cantrell pentalogy in a stillborn infant.

J. Opitz, J. F. Reynolds, J. Fox, 1988, American journal of medical genetics.

Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

D. Blumenthal, J. Fox, A. Zaslav, 2004, American journal of medical genetics. Part A.

Non‐Mendelian Inheritance

M. Mahoney, M. Dimaio, J. Fox, 2010 .

First and Second Trimester Screening

M. Mahoney, M. Dimaio, J. Fox, 2010 .

Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

D. Myssiorek, J. Fox, A. Zaslav, 1995, Head & neck.

Prenatal Diagnosis: Cases & Clinical Challenges

M. Dimaio, J. Fox, 2013 .

Prenatal Diagnosis: Cases & Clinical Challenges: Mahoney/Prenatal Diagnosis: Cases & Clinical Challenges

M. Mahoney, M. Dimaio, J. Fox, 2010 .

Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

W. Fenton, L. Rosenberg, A. M. Hack, 1986, American journal of human genetics.

Ocular manifestations of Noonan syndrome in the pediatric patient.

S. Rubin, J. Fox, S. Kodsi, 2004, Journal of AAPOS.