D. R. Mcleod

发表

VACTERL manifestations in two generations of a family.

M. Nezarati, D. R. Mcleod, 1999, American journal of medical genetics.

Disseminated bacille Calmette-Guérin infection in an infant with a novel deletion in the interferon-gamma receptor gene.

H. Davies, J. Cunningham, J. Kellner, 2000, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

F. Bernier, J. Parboosingh, P. Bridge, 2005, Journal of Medical Genetics.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, D. Lewis, 2012, Orphanet Journal of Rare Diseases.

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

R. Weksberg, D. Geary, I. Kaitila, 2000, European Journal of Pediatrics.

Metacarpophalangeal pattern profile analysis in fragile X syndrome.

M. Butler, N. Carpenter, F. Meaney, 1988, American journal of medical genetics.

Prevalence of glucose-6-phosphate dehydrogenase deficiency.

D. R. Mcleod, A. K. Leung, 1988, The Journal of pediatrics.

Clinical genetics and the Hutterite population: A review of Mendelian disorders

K. Boycott, F. Bernier, A. Innes, 2008, American journal of medical genetics. Part A.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Rosanna Weksberg, Pawel Stankiewicz, Hiroshi Takashima, 2002, Nature Genetics.

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

J. Charrow, C. Boerkoel, D. Lewis, 2012, Journal of dental research.

Polytopic anomalies with agenesis of the lower vertebral column.

E. Zackai, J. Opitz, S. Mundlos, 1999, American journal of medical genetics.

Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn.

K. Morgan, E. Fung, F. Snyder, 1991, Advances in experimental medicine and biology.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch‐German) Mennonite and Hutterite patients in North America

C. Ober, R. Hegele, V. Siu, 2012, American journal of medical genetics. Part A.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

Mutations within the spliceosomal gene SNRPB affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2015, Clinical genetics.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Stephen R. Williams, V. D. Der Kaloustian, H. Toriello, 2010, American journal of human genetics.

Chromosome 6q deletions: a report of two additional cases and a review of the literature.

J. Hoo, A. Robertson, S. B. Fowlow, 1990, American journal of medical genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

C. Ober, R. Hegele, O. Suchowersky, 2013, American journal of human genetics.

Recessive TRAPPC 11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

C. Ober, R. Hegele, O. Suchowersky, 2013 .

Familial Cardiomyopathy with Cataracts and Lactic Acidosis: A Defect in Complex I (NADH-Dehydrogenase) of the Mitochondria Respiratory Chain

B. Robinson, D. Applegarth, F. Merante, 1996, Pediatric Research.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

E. Puffenberger, R. Hegele, S. Küry, 2015, American journal of human genetics.

Metacarpophalangeal pattern profile analysis in a patient with ring (9)/del(9p) mosaicism.

D. R. Mcleod, A. Leung, N. L. Nudd, 1988, American journal of medical genetics.

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

W. Rubinstein, R. Ferrell, D. Brackmann, 2002, Journal of medical genetics.

High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome

P. Propping, S. Aretz, R. Santer, 2005, Human mutation.

Combination of renal agenesis with respiratory and alimentary tract atresia results in normal lung development.

A. Akierman, D. R. Mcleod, C. Trevenen, 2001, American journal of medical genetics.

Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay

F. Bernier, F. Snyder, D. R. Mcleod, 1996, Journal of Inherited Metabolic Disease.

Meckel syndrome in the Hutterite population is actually a Joubert‐related cerebello‐oculo‐renal syndrome

K. Boycott, F. Bernier, A. Innes, 2007, American journal of medical genetics. Part A.

Metacarpophalangeal pattern profile analysis in Williams syndrome.

M. Butler, D. R. Mcleod, L. Linton, 1993, American journal of medical genetics.

Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

O. Caluseriu, J. Chernos, D. R. Mcleod, 2021, Clinical dysmorphology.

Intellectual disability associated with a homozygous missense mutation in THOC6

C. Schwartz, E. Puffenberger, C. Ober, 2013, Orphanet Journal of Rare Diseases.

A pseudoisochromosome 18q and an isodicentric chromosome 18 *

G. Hoganson, J. Hoo, A. Robertson, 1989, Clinical genetics.

Multiple malformations and exposure to therapeutic ultrasound during organogenesis.

S. B. Fowlow, D. R. Mcleod, 1989, American journal of medical genetics.

Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia.

D. Hanley, D. R. Mcleod, R. McArthur, 1989, American journal of medical genetics.

Asymmetry quantification utilizing hand radiographs.

S. Coupland, D. R. Mcleod, 1992, American journal of medical genetics.

CAMPS: computer-automated metacarpophalangeal profile system.

R B Lowry, S G Coupland, D R McLeod, 1985, American journal of medical genetics.

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects. Clinical Teratology Committee, Canadian College of Medical Geneticists.

J. Allanson, E. Andermann, F. Fraser, 1993, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

E. Puffenberger, C. Ober, R. Hegele, 2015, Human mutation.

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

E. Wirrell, K. Barlow, K. Boycott, 2005, Developmental medicine and child neurology.

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

E. Wirrell, A. Bureau, K. Boycott, 2005, American journal of human genetics.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

Acute hemorrhagic leukoencephalitis in male sibs.

P. Bridge, A. Pinto, D. R. Mcleod, 2002, American journal of medical genetics.

A new variant of lethal neonatal short-limbed platyspondylic dwarfism.

D. Rimoin, R. Lachman, D. R. Mcleod, 1993, Archives of pathology & laboratory medicine.

Bowen–Conradi syndrome: A clinical and genetic study

F. Bernier, A. Innes, C. Greenberg, 2003, American journal of medical genetics. Part A.

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

E. Puffenberger, K. Boycott, C. Beaulieu, 2010, American journal of medical genetics. Part A.

Dominantly‐inherited lop ears

A. Leung, A. Y. Kong, D. R. Mcleod, 2007, American Journal of Medical Genetics. Part A.

Dominantly inherited lop ears

A. Y. Kong, D. R. Mcleod, Alexander K. C. Leung, 2008, American journal of medical genetics. Part A.

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

D. Hoar, D. R. Mcleod, L. Wesselman, 1991, Journal of medical genetics.

Infantile ictal apneas in a child with williams-beuren syndrome.

L. Bello-Espinosa, K. Myers, D. R. Mcleod, 2013, Pediatric neurology.

Cenani-Lenz syndrome: report of a new case and review of the literature.

M. Nezarati, D. R. Mcleod, 2002, Clinical dysmorphology.

Autosomal recessive cerebellar hypoplasia in the Hutterite population

K. Barlow, K. Boycott, H. Glass, 2005 .

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2014, Nature Communications.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch‐German) Mennonite and Hutterite patients in North America

C. Ober, R. Hegele, V. Siu, 2012, American journal of medical genetics. Part A.