Molecular basis for familial isolated growth hormone deficiency.

John A. Phillips, Brian Hjelle, P. H. Seeburg, +1

Proceedings of the National Academy of Sciences

Growth HormoneMendelian DisorderFamily MembersHuman GrowthGenetic Disorder +12

Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man.

Stylianos E. Antonarakis, John A. Phillips, Richard L. Mallonee, +6

Proceedings of the National Academy of Sciences

GeneticsHuman PolymorphismParathyroid GlandBeta-globin LocusGenotype-phenotype Association +17

Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.

Salmo Raskin, John A. Phillips, G Kaplan, +14

PubMed

Molecular Diagnostic TechniquesGenetic TestingMendelian DisorderGenetic DisorderCf Mutations +10

Angiotensin II type 1 receptor gene abnormality in a patient with Bartter's syndrome

Hiroaki Yoshida, Junji Kakuchi, Norishige Yoshikawa, +4

Kidney International

HypertensionAutoimmune DiseaseGeneticsPhysiologyGenetic Epidemiology +4

Discordant immune and growth response to pituitary and biosynthetic growth hormone in siblings with isolated growth hormone deficiency type IA

Berthold P. Hauffa, R Illig, Toni Torresani, +2

European Journal of Endocrinology

Kb DeletionHuman GrowthHigh Titre GrowthImmunologyPathology +19

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.

Salmo Raskin, John A. Phillips, M.R.S. Krishnamani, +10

PubMed

GeneticsGenetic EpidemiologyPathologyGuthrie CardsGenomics +18

Screening for growth hormone gene deletions in patients with isolated growth hormone deficiency

Takashi Kamijo, John A. Phillips, Masamichi Ogawa, +3

The Journal of Pediatrics

Growth HormoneEndocrine DiseaseHuman GrowthGenetic DisorderGenetics +3

Human Selenoprotein P Gene Maps to 5q31

Kristina E. Hill, Majed Dasouki, John A. Phillips, +1

Genomics

GeneticsHuman PolymorphismMolecular GeneticsDisease Gene IdentificationMedicine +1