Physician
Medical Genetics
Dr. Richard M. Pauli, MD
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Richard Pauli practices Medical Genetics. He went to medical school at University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10/19 in Research/PrimaryCare. Richard M. Pauli is a published doctor and has 101 publications published. The lastest was: 'Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.'
Publications
- An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic he...
- Airway malacia in children with achondroplasia.
- Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy.
- Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
- Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease.
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
- Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
- Stillbirth: fetal disorders.
- Chondrodysplasia punctata associated with malabsorption from bariatric procedures.
- Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.
- Stillbirth classification--developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop.
- Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
- A missense T (Brachyury) mutation contributes to vertebral malformations.
- Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care.
- Fraser syndrome: affected siblings born to nonconsanguineous parents and diagnosed at autopsy.
- The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories.
- DLL3 as a candidate gene for vertebral malformations.
- Pre- and postnatal findings in trisomy 17 mosaicism.
- Genetic services plan for Wisconsin.
- Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
- Spondylometaphyseal dysplasia with cone-rod dystrophy.
- Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
- Wisconsin Birth Defects Registry collecting data.
- Double heterozygosity in bone growth disorders: four new observations and review.
- Natural history of rhizomelic chondrodysplasia punctata.
- X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
- Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.
- Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report.
- Costs and consequences of comprehensive stillbirth assessment.
- Design and validation of an ELISA for equine infectious anemia (EIA) diagnosis using synthetic peptides.
- Simultaneous onset of insulin dependent diabetes mellitus in siblings.
- Toriello-Carey syndrome: delineation and review.
- Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
- Familial ovarian germ cell cancer: report and review.
- Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome.
- Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
- Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.
- Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
- Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations.
- Prevention of fixed, angular kyphosis in achondroplasia.
- Frontonasal malformation and deletion of 22q11.
- Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.
- Validation of radiographic criteria for the diagnosis of Down syndrome in stillborn infants.
- Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
- Biophysical bases for delayed and aberrant motor development in young children with achondroplasia.
- Unexpected familial recurrence in Angelman syndrome.
- Long-term survival in typical thanatophoric dysplasia type 1.
- Smith-Lemli-Opitz syndrome: thirty-year follow-up of "S" of "RSH" syndrome.
- Fine mapping of the nail-patella syndrome locus at 9q34.
- Errors in the prenatal diagnosis of children with achondroplasia.
- Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems.
- Temporal evolution of risk estimates for presumed human teratogens.
- Genetic heterogeneity in families with hereditary multiple exostoses.
- Evaluation of the effectiveness of a teratogen information service: a survey of patient and professional satisfaction.
- Cranial nerve abnormalities in CHARGE association.
- Lower mesodermal defects: a common cause of fetal and early neonatal death.
- Wisconsin Stillbirth Service Program: II. Analysis of diagnoses and diagnostic categories in the first 1,000 referrals.
- Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths.
- Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.
- Genetic heterogeneity in multiple epiphyseal dysplasia.
- Surgical intervention in achondroplasia.
- Natural history study of hereditary multiple exostoses.
- Patterson-Lowry rhizomelic dysplasia: a possible second example.
- Risks of anticoagulation during pregnancy.
- Abnormalities of sexual differentiation in campomelic dwarfs.
- Lip pits, cleft lip and/or palate, and congenital heart disease.
- Risk counselling in autosomal dominant disorders with undetermined penetrance.
- Agnathia, situs inversus, and associated malformations.
- Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation.
- Limb deficiency and splenogonadal fusion.
- Gardner syndrome and periampullary malignancy.
- Maternal and fetal sequelae of anticoagulation during pregnancy.
- Ethical judgments and medical evidence.
- Goldenhar association and cranial defects.
- Familial agnathia-holoprosencephaly.
- A new short rib syndrome: report of two cases.
- Apnea and sudden unexpected death in infants with achondroplasia.
- Homozygous achondroplasia with survival beyond infancy.
- Dominance and homozygosity in man.
- 'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion.
- Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening.
- A human lymphoblastoid cell line from the offspring of a brother-sister mating.
- Achondroplasia: unexpected familial recurrence.
- Genetic heterogeneity in spondyloepiphyseal dysplasia congenita.
- Sensorineural deafness and peripheral neuropathy.
- Proliferation of stimulated human peripheral blood lymphocytes: preferential incorporation of concanavalin A by stimulated cells and mitogenic activity.
- Receptor sites for concanavalin A on human peripheral lymphocytes and on lymphoblasts grown in long-term culture.
- Proliferation of human peripheral lymphocytes. Characteristics of cells once stimulated or re-stimulated by concanavalin A.
- Familial recurrence of terminal transverse defects of the arm.
- Hand-reduction malformations: genetic and syndromic analysis.
- Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus.
- Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.
- Upper cervical cord compression as cause of death in osteogenesis imperfecta type II.
- Foramen magnum stenosis in homozygous achondroplasia.
- Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
- Is reserpine a human teratogen?
- Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation.
- Accuracy of fetal death reports: comparison with data from an independent stillbirth assessment program.
- Mosaic isochromosome 12p.
- Dominantly inherited renal adysplasia.
Schools
University Of ChicagoThe Pritzker School Of Medicine
Chldns Orth Hospital and Mc
University of Washington
Doctors Specialties
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Education
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University of Washington -
University of Chicago Pritzker School of Medicine
Hospital
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University of Wisconsin Hospital and Clinics
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