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Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

American journal of medical genetics. Part A, 2007-09, Vol.143A (18), p.2143-2149

2007

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Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1706-1711

2009

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In vivo differentiated human embryonic stem cells can acquire chromosomal aberrations more frequently than in vitro during the same period

Stem cells and development, 2012-12, Vol.21 (18), p.3363-3371

2012

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Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding: Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases

European journal of haematology, 2002, Vol.68 (1), p.31-41

2002

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Children Listen: Psychological and Linguistic Aspects of Listening Difficulties During Development

2020

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On the interaction of speakers' voice quality, ambient noise and task complexity with children's listening comprehension and cognition

Frontiers in psychology, 2015-06, Vol.6, p.871-871

2015

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Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO‐ALL 2000 protocol

British journal of haematology, 2011-03, Vol.152 (5), p.615-622

2011

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Semantic Processing in Deaf and Hard-of-Hearing Children: Large N400 Mismatch Effects in Brain Responses, Despite Poor Semantic Ability

Frontiers in psychology, 2016, Vol.7 (1146), p.1146-1146

2016

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Subtelomeric rearrangements detected in patients with idiopathic mental retardation

American journal of medical genetics, 2002-02, Vol.107 (4), p.275-284

2002

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A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia

Acta Paediatrica, 1993-10, Vol.82 (10), p.758-763

1993

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Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy

American journal of medical genetics, 2001-03, Vol.99 (3), p.223-233

2001

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Rescue from the effects of trisomy 13q32→qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier

Journal of medical genetics, 1999-09, Vol.36 (9), p.718-719

1999

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P10: High resolution fine mapping of an extremely complex intrachromosomal rearrangement of chromosome 1 involving 13 breakpoints

European journal of medical genetics, 2005-10, Vol.48 (4), p.454-455

2005

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Fine mapping of the constitutional translocation t(11;22)(q23;q11)

Human genetics, 2000-05, Vol.106 (5), p.506-516

2000

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Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

Genes chromosomes & cancer, 1998-03, Vol.21 (3), p.260-264

1998

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Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding

European journal of haematology, 2002-01, Vol.68 (1), p.31-41

2002

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Cloning, Expression Pattern, and Chromosomal Assignment to 16q23 of the Human γ-Adaptin Gene (ADTG)

Genomics (San Diego, Calif.), 1998-06, Vol.50 (2), p.275-280

1998

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The human RAD51/RecA homologue gene is not a candidate gene for Bloom's syndrome

Human genetics, 1994-12, Vol.94 (6), p.705-707

1994

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Unequal SCE is a rare event in homologous recombination between duplicated neo gene fragments in CHO cells

Mutation research, 1990, Vol.243 (1), p.75-80

1990

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The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts

Human genetics, 1991-08, Vol.87 (4), p.503-505

1991

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Expression of the hypoxanthine phosphoribosyl transferase gene in resting and growth-stimulated human lymphocytes

Biochimica et biophysica acta, 1991-01, Vol.1088 (1), p.77-85

1991

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Molecular cytogenetic characterization and origin of two de novo duplication 9p cases

American journal of medical genetics, 2000-03, Vol.91 (2), p.102-106

2000

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Hprt activities and RNA phenotypes in 6-thioguanine resistant human T-lymphocytes

Mutation research, 1993-04, Vol.286 (2), p.209-215

1993

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Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

In vivo differentiated human embryonic stem cells can acquire chromosomal aberrations more frequently than in vitro during the same period

Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding: Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases

Children Listen: Psychological and Linguistic Aspects of Listening Difficulties During Development

On the interaction of speakers' voice quality, ambient noise and task complexity with children's listening comprehension and cognition

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO‐ALL 2000 protocol

Semantic Processing in Deaf and Hard-of-Hearing Children: Large N400 Mismatch Effects in Brain Responses, Despite Poor Semantic Ability

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

A missense mutation in the hypoxanthine phosphoribosyltransferase gene in a pediatric patient with hyperuricemia

Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy

Rescue from the effects of trisomy 13q32→qter owing to skewed X inactivation in a der(X)t(X;13)(p21;q32) carrier

P10: High resolution fine mapping of an extremely complex intrachromosomal rearrangement of chromosome 1 involving 13 breakpoints

Fine mapping of the constitutional translocation t(11;22)(q23;q11)

Bilateral multiple renal oncocytomas and cysts associated with a constitutional translocation (8;9)(q24.1;q34.3) and a rare constitutional VHL missense substitution

Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding

Cloning, Expression Pattern, and Chromosomal Assignment to 16q23 of the Human γ-Adaptin Gene (ADTG)

High resolution deletion analysis of conctitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

The human RAD51/RecA homologue gene is not a candidate gene for Bloom's syndrome

Unequal SCE is a rare event in homologous recombination between duplicated neo gene fragments in CHO cells

The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts

Expression of the hypoxanthine phosphoribosyl transferase gene in resting and growth-stimulated human lymphocytes

Molecular cytogenetic characterization and origin of two de novo duplication 9p cases

Hprt activities and RNA phenotypes in 6-thioguanine resistant human T-lymphocytes

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