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Significant frequency of MSH2/MSH6 abnormality in ovarian endometrioid carcinoma supports histotype-specific Lynch syndrome screening in ovarian carcinomas

Histopathology, 2016-08, Vol.69 (2), p.288-297

2016

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Birt-Hogg-Dubé syndrome: a large single family cohort

Respiratory research, 2016-02, Vol.17 (1), p.22-22, Article 22

2016

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A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin‐directed management

Pediatric dermatology, 2024-07

2024

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Recommendations for the implementation of genetic testing for metastatic prostate cancer patients in Canada

Canadian Urological Association journal, 2022-10, Vol.16 (10), p.321-332

2022

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Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

JAMA oncology, 2021-12, Vol.7 (12), p.1806

2021

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SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology

Clinical genetics, 2024-04, Vol.105 (4), p.386-396

2024

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An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

Hereditary cancer in clinical practice, 2010-05, Vol.8 (Suppl 1), p.P17-P17

2010

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Late presentation of cancer in compound heterozygote PMS2 mutation carrier

Hereditary cancer in clinical practice, 2011-03, Vol.9 (Suppl 1), p.P38-P38

2011

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Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion

Life science alliance, 2024-04, Vol.7 (4), p.e202302115

2024

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Universal Testing to Identify Lynch Syndrome Among Women With Newly Diagnosed Endometrial Carcinoma

Journal of obstetrics and gynaecology Canada, 2020-02, Vol.42 (2), p.137-143

2020

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Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights

Pediatric and developmental pathology, 2021-06, Vol.24 (3), p.235-240

2021

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Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2829-2845

2021

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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Genetics in medicine, 2019-05, Vol.21 (5), p.1058-1064

2019

Volltextzugriff (PDF)

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Clinical immunology (Orlando, Fla.), 2023-10, Vol.255, p.109732-109732, Article 109732

2023

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Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

Pediatric dermatology, 2014-03, Vol.31 (2), p.220-224

2014

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Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype: Prenatal diagnosis of mosaic trisomy 1q

Prenatal diagnosis, 2017-06, Vol.37 (6), p.602-610

2017

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Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma

Cancer genetics, 2016-07, Vol.209 (7), p.359-363

2016

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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Genetics in medicine, 2019-09, Vol.21 (9), p.2159-2160

2019

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Cancer Risks for Relatives of Patients With Serrated Polyposis

The American journal of gastroenterology, 2012-05, Vol.107 (5), p.770-778

2012

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Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child

Pediatric blood & cancer, 2016-12, Vol.63 (12), p.2240-2242

2016

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Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns‐like phenotype

Prenatal diagnosis, 2017-06, Vol.37 (6), p.602-610

2017

Volltextzugriff (PDF)

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Hemoglobin, 2021-07, Vol.45 (4), p.215-219

2021

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Bilateral congenital lumbar hernias in a patient with central core disease – A case report

Neuromuscular disorders : NMD, 2016-01, Vol.26 (1), p.56-59

2016

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Significant frequency of MSH2/MSH6 abnormality in ovarian endometrioid carcinoma supports histotype-specific Lynch syndrome screening in ovarian carcinomas

Birt-Hogg-Dubé syndrome: a large single family cohort

A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin‐directed management

Recommendations for the implementation of genetic testing for metastatic prostate cancer patients in Canada

Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes

SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

Late presentation of cancer in compound heterozygote PMS2 mutation carrier

Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion

Universal Testing to Identify Lynch Syndrome Among Women With Newly Diagnosed Endometrial Carcinoma

Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights

Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype: Prenatal diagnosis of mosaic trisomy 1q

Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Cancer Risks for Relatives of Patients With Serrated Polyposis

Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns‐like phenotype

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Bilateral congenital lumbar hernias in a patient with central core disease – A case report

Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics

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