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FOXP1 mutations cause intellectual disability and a recognizable phenotype

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3166-3175

2013

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Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

European journal of medical genetics, 2010-03, Vol.53 (2), p.93-99

2010

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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

American journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.1008-1017

2015

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

European journal of human genetics : EJHG, 2013-05, Vol.21 (5), p.522-527

2013

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Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Journal of medical genetics, 2007-07, Vol.44 (7), p.448-451

2007

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Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

American journal of medical genetics. Part A, 2007-09, Vol.143A (18), p.2165-2171

2007

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The t(8;13)(p11;q11–12) Rearrangement Associated with an Atypical Myeloproliferative Disorder Fuses the Fibroblast Growth Factor Receptor 1 Gene to a Novel Gene RAMP

Human molecular genetics, 1998-04, Vol.7 (4), p.637-642

1998

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The coagulation factor VII regulator is located on 8p23.1

Human genetics, 1988-08, Vol.79 (4), p.365-367

1988

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Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

Journal of medical genetics, 1997-09, Vol.34 (9), p.719-728

1997

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Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

BMJ case reports, 2009, Vol.2009 (jun04 1), p.bcr0520091914-bcr0520091914

2009

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A new interstitial deletion of 4q (q21.1::q22.1)

Journal of medical genetics, 1989-10, Vol.26 (10), p.644-647

1989

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Del(4)(q33----qter): another case report of a child with mild dysmorphism

Journal of medical genetics, 1989-12, Vol.26 (12), p.776-778

1989

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A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase

Journal of medical genetics, 1989-10, Vol.26 (10), p.619-625

1989

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Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization

American journal of medical genetics, 1997-04, Vol.69 (4), p.352-355

1997

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A deletion of heterochromatin only of the Y chromosome in an azoospermic male

Human genetics, 1983-01, Vol.64 (3), p.297-300

1983

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Translocation (8;13) and T-cell lymphoma

Cancer genetics and cytogenetics, 1993-01, Vol.65 (1), p.71-73

1993

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Translocation (8;13) and T-cell lymphoma: A case report

Cancer genetics and cytogenetics, 1993, Vol.65 (1), p.71-73

1993

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Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

American Journal of Medical Genetics Part A, 2007, Vol.143A (18), p.2165-2171

2007

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Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13-implications for cytogenetics and molecular biology

American journal of medical genetics, 1996-11, Vol.65 (4), p.304-308

1996

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The effect of the phenoxyacetic acid herbicides 2,4,5-trichlorophenoxyacetic acid and 2,4-dichlorophenoxyacetic acid as ascertained by direct experimentation

Residue Reviews, 1984, Vol.92, p.29-58

1984

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Vascularized tissue to reduce fistula following salvage total laryngectomy: A systematic review

The Laryngoscope, 2014-08, Vol.124 (8), p.1848-1853

2014

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Cardiovascular Effects of Intensive Lifestyle Intervention in Type 2 Diabetes

The New England journal of medicine, 2013-07, Vol.369 (2), p.145-154

2013

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Four-Year Weight Losses in the Look AHEAD Study: Factors Associated With Long-Term Success

Obesity (Silver Spring, Md.), 2011-10, Vol.19 (10), p.1987-1998

2011

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FOXP1 mutations cause intellectual disability and a recognizable phenotype

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

The t(8;13)(p11;q11–12) Rearrangement Associated with an Atypical Myeloproliferative Disorder Fuses the Fibroblast Growth Factor Receptor 1 Gene to a Novel Gene RAMP

The coagulation factor VII regulator is located on 8p23.1

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

A new interstitial deletion of 4q (q21.1::q22.1)

Del(4)(q33----qter): another case report of a child with mild dysmorphism

A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase

Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization

A deletion of heterochromatin only of the Y chromosome in an azoospermic male

Translocation (8;13) and T-cell lymphoma

Translocation (8;13) and T-cell lymphoma: A case report

Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13-implications for cytogenetics and molecular biology

The effect of the phenoxyacetic acid herbicides 2,4,5-trichlorophenoxyacetic acid and 2,4-dichlorophenoxyacetic acid as ascertained by direct experimentation

Vascularized tissue to reduce fistula following salvage total laryngectomy: A systematic review

Contemporary management of lymph node metastases from an unknown primary to the neck: II. A review of therapeutic options

Cardiovascular Effects of Intensive Lifestyle Intervention in Type 2 Diabetes

Contemporary management of lymph node metastases from an unknown primary to the neck: I. A review of diagnostic approaches

Four-Year Weight Losses in the Look AHEAD Study: Factors Associated With Long-Term Success

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