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Cyclin D3 deregulation by juxtaposition with IGH locus in a t(6;14)(p21;q32)-positive T-cell acute lymphoblastic leukemia

Leukemia research, 2010, Vol.34 (1), p.e13-e14

2010

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First prenatally diagnosed case of 16p11.2p12.1 duplication

Prenatal diagnosis, 2008, Vol.28 (3), p.254-256

2008

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LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome

Leukemia, 2009, Vol.23 (7), p.1359-1361

2009

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Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion

American Journal of Medical Genetics Part A, 2009, Vol.149A (2), p.226-231

2009

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Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

Leukemia, 2008, Vol.22 (6), p.1278-1280

2008

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Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

Clinical genetics, 2008, Vol.73 (1), p.89-91

2008

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NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance

Leukemia, 2005, Vol.19 (3), p.468-470

2005

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Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Journal of medical genetics, 2003, Vol.40 (4), p.300-303

2003

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Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome

American Journal of Medical Genetics Part A, 2003, Vol.116A (1), p.90-93

2003

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Classical West "syndrome" phenotype with a subtelomeric 4p trisomy

American Journal of Medical Genetics Part A, 2004, Vol.130A (3), p.299-302

2004

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Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes

Journal of medical genetics, 2001, Vol.38 (3), p.178-182

2001

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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Journal of medical genetics, 2002, Vol.39 (8), p.594-596

2002

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Periocular steroids for macular edema associated with retinal arteriovenous malformation: A case report

Indian journal of ophthalmology, 2020, Vol.68 (10), p.2298-2300

2020

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Primary angiosarcoma of breast in an octogenarian woman: A case report with literature review

International journal of surgery case reports, 2023, Vol.107, p.108163-108163

2023

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Skin reducing nipple sparing mastectomy with immediate breast reconstruction for huge borderline phyllodes tumor of the breast: Case report

International journal of surgery case reports, 2023, Vol.105, p.107996-107996

2023

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A rare case of a recurrent atypical adenomyoepithelial tumor of the breast: Case report

International journal of surgery case reports, 2023, Vol.109, p.108632-108632

2023

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Isolated intracranial myeloid sarcoma: report of a case and review of the literature

British Journal of Neurosurgery, 2023, Vol.37 (3), p.350-353

2023

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Surgical palliation in poorly differentiated neuroendocrine carcinoma of the hypopharynx: Case report

Cancer reports (Hoboken, N.J.), 2022, Vol.5 (8), p.e1558-e1558

2022

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Autosomal dominant polycystic kidney disease and pericardial effusion: coincidence? I think not! Case report and review of the literature

European heart journal. Case reports, 2024, Vol.8 (4), p.ytae144-ytae144

2024

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Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

Frontiers in endocrinology, 2024, Vol.15, p.1364234-1364234

2024

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Thin on the ground: Primary mucosal melanoma of the nasal cavity

International journal of surgery case reports, 2023, Vol.111, p.108929-108929

2023

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Axillary synovial sarcoma recurrence involving brachial plexus, a rare case report from Pakistan

International journal of surgery case reports, 2023, Vol.107, p.108325-108325

2023

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Brown tumor of the knee as the first presentation of primary hyperparathyroidism caused by parathyroid adenoma: A case report

Radiology case reports, 2023, Vol.18 (5), p.1852-1855

2023

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'Man-in-the-barrel' syndrome: a case report of bilateral arm paresis following cardiac arrest

Annals of medicine and surgery (2012), 2023, Vol.85 (3), p.435-438

2023

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Subcutaneous fat necrosis of the newborn - An atypical case with typical complications

Clinical case reports, 2021, Vol.9 (4), p.2069-2073

2021

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Cyclin D3 deregulation by juxtaposition with IGH locus in a t(6;14)(p21;q32)-positive T-cell acute lymphoblastic leukemia

First prenatally diagnosed case of 16p11.2p12.1 duplication

LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome

Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion

Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation

Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene

NUP214-ABL1 amplification in t(5;14)/HOX11L2-positive ALL present with several forms and may have a prognostic significance

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy

Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Periocular steroids for macular edema associated with retinal arteriovenous malformation: A case report

Primary angiosarcoma of breast in an octogenarian woman: A case report with literature review

Skin reducing nipple sparing mastectomy with immediate breast reconstruction for huge borderline phyllodes tumor of the breast: Case report

A rare case of a recurrent atypical adenomyoepithelial tumor of the breast: Case report

Isolated intracranial myeloid sarcoma: report of a case and review of the literature

Surgical palliation in poorly differentiated neuroendocrine carcinoma of the hypopharynx: Case report

Autosomal dominant polycystic kidney disease and pericardial effusion: coincidence? I think not! Case report and review of the literature

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

Thin on the ground: Primary mucosal melanoma of the nasal cavity

Axillary synovial sarcoma recurrence involving brachial plexus, a rare case report from Pakistan

Brown tumor of the knee as the first presentation of primary hyperparathyroidism caused by parathyroid adenoma: A case report

'Man-in-the-barrel' syndrome: a case report of bilateral arm paresis following cardiac arrest

Subcutaneous fat necrosis of the newborn - An atypical case with typical complications

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