J. Rogers

发表

Autosomal recessive hydrocephalus with third ventricle obstruction.

C. Chow, E. Phelan, R. Anderson, 1990, American journal of medical genetics.

Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith‐Magenis syndrome)

M. Leversha, L. Voullaire, J. Rogers, 1990, Journal of paediatrics and child health.

Studies of the aetiology of neonatal hepatitis and biliary atresia.

A L Smith, P E Campbell, I Jack, 1977, Archives of disease in childhood.

Prognosis of babies with neonatal hepatitis.

D. Danks, A. Smith, J. Rogers, 1977, Archives of disease in childhood.

Macrodactyly, hemihypertrophy, and connective tissue nevi: report of a new syndrome and review of the literature.

S. Temtamy, J. Rogers, 1976, The Journal of pediatrics.

The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis

J. Savulescu, R. Williamson, M. Delatycki, 2010, Familial Cancer.

Monozygotic twins discordant for trisomy 21.

J. Opitz, L. Voullaire, J. Rogers, 1982, American journal of medical genetics.

Type X Collagen Multimer Assembly in Vitro Is Prevented by a Gly618 to Val Mutation in the α1(X) NC1 Domain Resulting in Schmid Metaphyseal Chondrodysplasia (*)

W. Cole, J. Bateman, J. Rogers, 1995, The Journal of Biological Chemistry.

A NEW FORM OF PROLONGED TRANSIENT TYROSINEMIA PRESENTING WITH SEVERE METABOLIC ACIDOSIS

D. Danks, J. Rogers, D. Danks, 1975, Acta paediatrica Scandinavica.

The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.

W. Cole, J. Rogers, R. K. Hall, 1993, Journal of medical genetics.

Use and complications of high-dose disodium etidronate therapy in fibrodysplasia ossificans progressiva.

J. Dorst, J. Rogers, W. Geho, 1977, The Journal of pediatrics.

“Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease

J. Savulescu, R. Williamson, M. Delatycki, 2007, American journal of medical genetics. Part A.

X-linked pyruvate dehydrogenase E1α subunit deficiency in heterozygous females: Variable manifestation of the same mutation

G. Brown, D. Danks, H. Dahl, 1992, Journal of Inherited Metabolic Disease.

Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome.

C. Woods, M. Leversha, J. Rogers, 1995, Journal of medical genetics.

Duplication of a small segment of 5p due to maternal recombination within a paracentric shift.

L. Voullaire, G. Webb, J. Rogers, 1988, American journal of medical genetics.

“Cerebral” lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

G. Brown, D. Danks, D. Kirby, 2004, European Journal of Pediatrics.

Studies oftheaetiology ofneonatal hepatitis andbiliary atresia

D. Danks, A. Smith, J. Rogers, 1977 .

IS DEATH THE END?

D. Danks, J. Rogers, 1981, The Medical journal of Australia.

A variant of campomelia.

J. Dorst, R. Cranley, J. Rogers, 1975, Birth defects original article series.

Medical complications of achondroplasia: a multicentre patient review.

D. Sillence, A. Hunter, A. Bankier, 1998, Journal of medical genetics.

Acromesomelic dwarfism: manifestations in childhood.

E. Franken, J. Dorst, R. K. Beals, 1977, American journal of medical genetics.

An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement.

S. Robertson, R. Savarirayan, J. Rogers, 1999, American journal of medical genetics.

A postaxial polydactyly-dental-vertebral syndrome.

J. Dorst, S. Temtamy, J. Rogers, 1977, The Journal of pediatrics.

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

In Ho Choi, George J. Feldman, David A. Fenstermacher, 2006, Nature Genetics.

Hereditary Hyperammonaemic Syndromes — A Six Year Experience

D. Danks, J. Rogers, E. Haan, 1979, Australian paediatric journal.

Congenital cutis laxa

D. Danks, J. Rogers, 1986, Clinical genetics.

Longterm follow‐up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history

R. Boyle, R. Savarirayan, J. Rogers, 2004, American journal of medical genetics. Part A.

Anaesthesia for Children with Mucopolysaccharidoses

T. Brown, J. Rogers, I. McKenzie, 1996, Anaesthesia and intensive care.

Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34.

G. Webb, J. Rogers, C. Keith, 1988, Journal of medical genetics.

Tertiary lactic acidosis.

D. Danks, J. Rogers, R. Wilkinson, 1981, The Journal of pediatrics.

Two new sulphur-containing amino acids in man.

R. Cotton, D. Danks, J. Hammond, 1981, Biomedical mass spectrometry.

The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.

W. Cole, J. Bateman, J. Rogers, 1990, Journal of medical genetics.

Theclinical features ofosteogenesis imperfecta resulting froma non-functional carboxy terminal proal(I) propeptide oftypeIprocollagen anda severe deficiency ofnormal typeIcollagen intissues

W. Cole, J. Bateman, J. Rogers, 1990 .

Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?

D. Danks, D. Pitt, J. Rogers, 1984, American journal of medical genetics.

beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.

G. Brown, R. Cotton, D. Danks, 1982, Pediatrics.

Does sacral agenesis predispose to spina bifida?

E. Haan, J. Rogers, R. Magnus, 1983, Journal of medical genetics.

Tetraploidy in a live-born infant with spina bifida and other anomalies

D. Pitt, J. Rogers, R. Anderson, 1981 .

The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation

M. Leversha, J. Rogers, A. Daniel, 1980, Australian paediatric journal.

“You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)

J. Savulescu, R. Williamson, M. Delatycki, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

IQ measurement in children with skeletal dysplasia.

J. Rogers, L. Rosenberg, M. A. Perry, 1979, Pediatrics.

Heterogeneity of metatropic dysplasia

M. Beck, J. Rogers, J. Spranger, 1983, European Journal of Pediatrics.

The mucopolysaccharidoses

D. Danks, J. Wraith, J. Rogers, 1987, Australian paediatric journal.

Fibrodysplasia ossificans progressiva. A survey of forty-two cases.

J. Rogers, W. Geho, J. Rogers, 1979, The Journal of bone and joint surgery. American volume.

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

U. Surti, E. McPherson, M. Clemens, 1996, American journal of medical genetics.

Paternal age effect in fibrodysplasia ossificans progressiva.

G. Chase, J. Rogers, 1979, Journal of medical genetics.

The phenotype of fibrodysplasia ossificans progressiva

J. Connor, F. Kaplan, D. Glaser, 2005 .

Lamin B 1 duplications cause autosomal dominant leukodystrophy

M. Brown, J. Connor, T. Cho, 2007 .

Cerebrospinal fluid shunts in the management of behavioural problems in Sanfilippo syndrome (MPS III)

G. Klug, J. Rogers, S. Robertson, 1998, European Journal of Pediatrics.

Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

S. Robertson, A. Bankier, R. Savarirayan, 2003, Pediatric pathology & molecular medicine.

5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case

E. Haan, J. Rogers, P. B. Rowe, 1985, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of sex-linked hydrocephalus.

D. Danks, J. Rogers, 1983, Prenatal diagnosis.

Atelosteogenesis: evidence for heterogeneity

D. Sillence, G. Cullity, P. Sprague, 2006, Pediatric Radiology.

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

J. Christodoulou, S. Menahem, J. Rogers, 1988, Journal of medical genetics.

Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies.

W. Meyer, J. Rogers, M. Urban, 1979, The Journal of pediatrics.

5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case

E. Haan, J. Rogers, P. B. Rowe, 1985, Journal of inherited metabolic disease.

FBN1, TGFBR1, and the Marfan‐craniosynostosis/mental retardation disorders revisited

E. Haan, S. Robertson, K. Sullivan, 2006, American journal of medical genetics. Part A.

Cutis laxa with delayed development

D. Danks, J. Rogers, 1985, Australian paediatric journal.

Picture of the month.

J. Rogers, M. Feingold, S. Gellis, 2023, A M A Journal of Diseases of Children.