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MicroRNAs in development and disease

Clinical genetics, 2008-10, Vol.74 (4), p.296-306

2008

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Conquering the complex world of human septins: implications for health and disease

Clinical genetics, 2010-06, Vol.77 (6), p.511-524

2010

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PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma

Proceedings of the National Academy of Sciences - PNAS, 1991-11, Vol.88 (21), p.9638-9642

1991

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Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

The American journal of cardiology, 1998-08, Vol.82 (4), p.474-479

1998

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Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas

Cancer research (Chicago, Ill.), 2001-05, Vol.61 (10), p.4130-4135

2001

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Genomic and Expression Analyses of Alternatively Spliced Transcripts of the MLL Septin-like Fusion Gene (MSF) That Map to a 17q25 Region of Loss in Breast and Ovarian Tumors

Genomics (San Diego, Calif.), 2000-01, Vol.63 (2), p.165-172

2000

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Mutation and expression analysis of human BUB1 and BUB1B in aneuploid breast cancer cell lines

Cancer letters, 2000-05, Vol.152 (2), p.193-199

2000

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Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1

Journal of medical genetics, 2002-07, Vol.39 (7), p.484-488

2002

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Mutant deoxynucleotide carrier is associated with congenital microcephaly

Nature genetics, 2002-09, Vol.32 (1), p.175-179

2002

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A region of interstitial 17q25 allelic loss in ovarian tumors coincides with a defined region of loss in breast tumors

Oncogene, 1997-04, Vol.14 (16), p.1991-1994

1997

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Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

American journal of human genetics, 2002-09, Vol.71 (3), p.618-624

2002

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Characterisation and genetic mapping of a new X linked deafness syndrome

Journal of medical genetics, 2000-11, Vol.37 (11), p.836-841

2000

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Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma : implications for 9p tumor-suppressor gene(s)

American journal of human genetics, 1993-07, Vol.53 (1), p.96-104

1993

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Human dermatosparaxis : a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

American journal of human genetics, 1992-08, Vol.51 (2), p.235-244

1992

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Absence of PTEN Germ-Line Mutations in Men with a Potential Inherited Predisposition to Prostate Cancer

Clinical cancer research, 1999-06, Vol.5 (6), p.1387-1391

1999

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Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia

The Journal of pediatrics, 2000-12, Vol.137 (6), p.882-886

2000

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Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

American journal of human genetics, 2004-10, Vol.75 (4), p.703-708

2004

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DNA diagnosis with mutation-specific artificial methylation sites: application to rapid screening of delta F508

Clinical chemistry (Baltimore, Md.), 1992-12, Vol.38 (12), p.2422

1992

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Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy

American journal of medical genetics, 1992-11, Vol.44 (4), p.500-502

1992

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Previously unrecognized congenital progeroid disorder

American journal of medical genetics, 1990-03, Vol.35 (3), p.383-387

1990

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Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9

American journal of medical genetics, 1993-01, Vol.45 (1), p.77-80

1993

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Klippel-Feil sequence and sleep-disordered breathing in two children

The American review of respiratory disease, 1993-01, Vol.147 (1), p.202

1993

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Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)

American journal of medical genetics, 1993-03, Vol.45 (6), p.770-773

1993

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Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV: Two Case Reports and a Review of the Literature

Journal of neuro-ophthalmology, 2002-06, Vol.22 (2), p.75-81

2002

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Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions

American journal of medical genetics, 1998-03, Vol.76 (2), p.111-119

1998

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MicroRNAs in development and disease

Conquering the complex world of human septins: implications for health and disease

PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma

Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections

Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas

Genomic and Expression Analyses of Alternatively Spliced Transcripts of the MLL Septin-like Fusion Gene (MSF) That Map to a 17q25 Region of Loss in Breast and Ovarian Tumors

Mutation and expression analysis of human BUB1 and BUB1B in aneuploid breast cancer cell lines

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1

Mutant deoxynucleotide carrier is associated with congenital microcephaly

A region of interstitial 17q25 allelic loss in ovarian tumors coincides with a defined region of loss in breast tumors

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

Characterisation and genetic mapping of a new X linked deafness syndrome

Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma : implications for 9p tumor-suppressor gene(s)

Human dermatosparaxis : a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

Absence of PTEN Germ-Line Mutations in Men with a Potential Inherited Predisposition to Prostate Cancer

Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

DNA diagnosis with mutation-specific artificial methylation sites: application to rapid screening of delta F508

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy

Previously unrecognized congenital progeroid disorder

Cutaneous malignant melanoma and atypical moles associated with a constitutional rearrangement of chromosomes 5 and 9

Klippel-Feil sequence and sleep-disordered breathing in two children

Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)

Spontaneous Direct Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV: Two Case Reports and a Review of the Literature

Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions

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