Professor, Pediatrics, University of Utah School of Medicine
Pediatrics
Dr. John M. Opitz, MD
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John Opitz works in the field of Pediatrics. John Opitz is also published. He has 64 publications published. The lastest publication: "An amnion implantation hypothesis: A conceptual framework for mechanism-based studies of amnion adhesion.'
Publications
- An amnion implantation hypothesis: A conceptual framework for mechanism-based studies of amnion adhesion.
- Molecular Inversion Probe Array for the Genetic Evaluation of Stillbirth Using Formalin-Fixed, Paraffin-Embedded Tissue.
- Categorization of common arterial trunk.
- Hamartoma Syndromes, Exome Sequencing, and a Protean Puzzle.
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency.
- Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report.
- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.
- A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.
- Why is the construction: Hypoplastic left heart "syndrome" a misnomer? And: What is a syndrome, anyhow?
- Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
- Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
- Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism.
- Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery.
- Congenital perineal hernia in a fetus with trisomy 18.
- Elements of morphology: standard terminology for the periorbital region.
- A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
- Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
- Invited editorial comment: further reflections on gastroschisis.
- X-linked congenital ataxia: a new locus maps to Xq25-q27.1.
- The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008.
- Restrictive dermopathy: report and review.
- Fraser syndrome.
- Obesity: genetic, molecular, and environmental aspects.
- Development: clinical and evolutionary considerations.
- Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
- Genitourinary anomalies of pediatric FG syndrome.
- Invited comment: gastroschisis.
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
- Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany.
- RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi.
- Colophon: vere dignum et justum est ... an unedited MS.
- Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.
- Meckel on developmental pathology.
- An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.
- Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?
- A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
- XK-aprosencephaly and related entities.
- Prenatal death in Smith-Lemli-Opitz/RSH syndrome.
- Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG.
- Chiari I malformation in patients with FG syndrome.
- Prenatal death in Fraser syndrome.
- Scott Rogers on dinosaur behavior, in: the annals of morphology.
- A chicken consultation with ramifications.
- Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
- A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome.
- Perrault syndrome: evidence for progressive nervous system involvement.
- Pseudoaminopterin syndrome and trisomy 9.
- Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
- Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.
- Goethe's bone and the beginnings of morphology.
- Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbs.
- Splenogonadal fusion-limb defect "syndrome" and associated malformations.
- Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia.
- Conjoined twins: morphogenesis of the heart and a review.
- Fetus-in-fetu form of monozygotic twinning with retroperitoneal teratoma.
- Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or he...
- Apparent encephalocele in twin fetus papyraceus with twin-reversal arterial perfusion.
- CFC syndrome.
- Documentation of anomalies not previously described in Fryns syndrome.
- Defects of blastogenesis.
- FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].
- HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.
- Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
Schools
University of Ia Roy J amp L Carver Com
Sui Hospital
University Wis Hosps
Doctors Specialties
- Clinical Genetics
- Pediatrics
Accepted Insurances
Hospital
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University of Utah Health Care - Hospital and Clinics
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