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Syndromes of disordered chromatin remodeling

Clinical genetics, 2003-08, Vol.64 (2), p.83-95

2003

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High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

Clinical genetics, 2001-09, Vol.60 (3), p.198-205

2001

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Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis

American journal of human genetics, 1997-12, Vol.61 (6), p.1254-1260

1997

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Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Journal of lipid research, 2001-07, Vol.42 (7), p.1134-1142

2001

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Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations

The New England journal of medicine, 2001-06, Vol.344 (25), p.1904-1909

2001

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Strontium-89 chloride for pain palliation in prostatic skeletal malignancy

British journal of radiology, 1991-09, Vol.64 (765), p.816

1991

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Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

Journal of medical genetics, 1995-01, Vol.32 (1), p.25-31

1995

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Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype

Clinical genetics, 1993-11, Vol.44 (5), p.258-261

1993

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SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

Progress in neuro-psychopharmacology & biological psychiatry, 2024-02, Vol.129, p.110888-110888, Article 110888

2024

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A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

American journal of medical genetics, 2003-10, Vol.122A (2), p.139-147

2003

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The effect of cisplatin on renal function in patients with testicular tumours

Clinical radiology, 1988-03, Vol.39 (2), p.190-192

1988

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Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

Journal of inherited metabolic disease, 1992-01, Vol.15 (1), p.68-74

1992

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Recurrent respiratory infections in a child with fucosidosis: Is the mucus too thin for effective transport?

Pediatric pulmonology, 1991, Vol.10 (4), p.304-309

1991

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Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus

Human genetics, 1994-03, Vol.93 (3), p.335-338

1994

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Recurrent abortion and amino‐acid abnormalities

Journal of inherited metabolic disease, 1991-09, Vol.14 (5), p.851-851

1991

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The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.852-855

1992

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Accutane-induced teratogenesis

Canadian Medical Association journal (CMAJ), 1985-12, Vol.133 (11), p.1147

1985

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Evidence for multi-site closure of the neural tube in humans

American journal of medical genetics, 1993-10, Vol.47 (5), p.723-743

1993

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Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13

Journal of neurogenetics, 1986, Vol.3 (4), p.225-231

1986

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125 EXPANSION OF THE 22q13 DELETION PHENOTYPE IN FOUR PATIENTS WITH AUTISM SPECTRUM DISORDER

Journal of investigative medicine, 2004-01, Vol.52 (Suppl 1), p.S100-S100

2004

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Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

Human mutation, 1996, Vol.7 (2), p.167-171

1996

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Raynaud's phenomenon following cytotoxic chemotherapy successfully managed by dorsal sympathectomy

European journal of surgical oncology, 1989-02, Vol.15 (1), p.79-81

1989

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Megestrol Acetate in Relapsed Carcinoma of Prostate

British Journal of Urology, 1990-03, Vol.65 (3), p.275-277

1990

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Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia

Journal of inherited metabolic disease, 1989-03, Vol.12 (1), p.86-88

1989

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Spontaneous subcutaneous and mediastinal emphysema--a complication of lung function tests in Pneumocystis carinii pneumonia

Postgraduate medical journal, 1988-12, Vol.64 (758), p.960-962

1988

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Syndromes of disordered chromatin remodeling

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia

Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations

Strontium-89 chloride for pain palliation in prostatic skeletal malignancy

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus

Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

The effect of cisplatin on renal function in patients with testicular tumours

Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible

Recurrent respiratory infections in a child with fucosidosis: Is the mucus too thin for effective transport?

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus

Recurrent abortion and amino‐acid abnormalities

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)

Accutane-induced teratogenesis

Evidence for multi-site closure of the neural tube in humans

Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13

125 EXPANSION OF THE 22q13 DELETION PHENOTYPE IN FOUR PATIENTS WITH AUTISM SPECTRUM DISORDER

Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease

Raynaud's phenomenon following cytotoxic chemotherapy successfully managed by dorsal sympathectomy

Megestrol Acetate in Relapsed Carcinoma of Prostate

Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia

Spontaneous subcutaneous and mediastinal emphysema--a complication of lung function tests in Pneumocystis carinii pneumonia

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