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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

Science advances, 2023-04, Vol.9 (17), p.eade0631-eade0631

2023

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Journal of human genetics, 2012-03, Vol.57 (3), p.191-196

2012

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Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal

Clinical genetics, 2008-07, Vol.74 (1), p.93-95

2008

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Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

American journal of medical genetics. Part A, 2006-02, Vol.140A (4), p.398-401

2006

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Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome

American journal of medical genetics. Part A, 2007-05, Vol.143A (10), p.1087-1090

2007

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Caudal Regression and Tracheoesophageal Malformation Induced by Adriamycin: A Novel Chick Model of VATER Association

Pediatric research, 2009-06, Vol.65 (6), p.607-612

2009

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Case report: Adult phenotype of Mulvihill–Smith syndrome

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.496-500

2009

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Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay

Genetic testing and molecular biomarkers, 2009-10, Vol.13 (5), p.623

2009

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Partial Deletion of LIS1 : A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome

Pediatric neurology, 2007-04, Vol.36 (4), p.258-260

2007

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Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype

American journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.1967-1971

2008

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Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

American journal of medical genetics. Part A, 2007-12, Vol.143A (23), p.2838-2842

2007

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Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements

Genetic testing, 2007-09, Vol.11 (3), p.241

2007

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Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography

Genetic testing, 2007-09, Vol.11 (3), p.216

2007

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Identification of a prosencephalic-specific enhancer of SALL1: Comparative genomic approach using the chick embryo

Pediatric research, 2007-06, Vol.61 (6), p.660-665

2007

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Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.2115-2119

2010

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EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome

Congenital anomalies, 2007-03, Vol.47 (1), p.49-52

2007

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Russell-Silver syndrome

Nihon rinshō, 2006-09, Vol.Suppl 3, p.436

2006

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Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

Prenatal diagnosis, 2006-11, Vol.26 (11), p.1054-1057

2006

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Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome: GONADAL MOSAICISM IN CORNELIA DE LANGE SYNDROME

Prenatal diagnosis, 2006-11, Vol.26 (11), p.1054-1057

2006

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UMBILICAL CORD LENGTH IN URINARY TRACT ABNORMALITIES ASSOCIATED WITH OLIGOHYDRAMNIOS: EVIDENCE REGARDING DEVELOPMENTAL PATHOGENESIS

Fetal and pediatric pathology, 2006-09, Vol.25 (5), p.233-240

2006

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Finite-dimensional Kac algebras arising from certain group actions on a factor

International Mathematics Research Notices, 1996, Vol.1996 (8), p.357-370

1996

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1 W Ku-band AlGaAs/GaAs power HBT's with 72% peak power-added efficiency

IEEE transactions on electron devices, 1995-11, Vol.42 (11), p.1890-1896

1995

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IEEE_Xplore

1 W Ku-band AlGaAs/GaAs power HBT' s with 72%25 peak power-addedefficiency

IEEE transactions on electron devices, 1995-11, Vol.42 (11), p.1890-1896

1995

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1 W Ku-band AlGaAs/GaAs power HBT''s with 72%25 peak power-addedefficiency

IEEE transactions on electron devices, 1995-11, Vol.42 (11), p.1890-1896

1995

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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome

Caudal Regression and Tracheoesophageal Malformation Induced by Adriamycin: A Novel Chick Model of VATER Association

Case report: Adult phenotype of Mulvihill–Smith syndrome

Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay

Partial Deletion of LIS1 : A Pitfall in Molecular Diagnosis of Miller-Dieker Syndrome

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype

Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family

Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography

Identification of a prosencephalic-specific enhancer of SALL1: Comparative genomic approach using the chick embryo

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood

EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome

Russell-Silver syndrome

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome: GONADAL MOSAICISM IN CORNELIA DE LANGE SYNDROME

UMBILICAL CORD LENGTH IN URINARY TRACT ABNORMALITIES ASSOCIATED WITH OLIGOHYDRAMNIOS: EVIDENCE REGARDING DEVELOPMENTAL PATHOGENESIS

Finite-dimensional Kac algebras arising from certain group actions on a factor

1 W Ku-band AlGaAs/GaAs power HBT's with 72% peak power-added efficiency

1 W Ku-band AlGaAs/GaAs power HBT' s with 72%25 peak power-addedefficiency

1 W Ku-band AlGaAs/GaAs power HBT''s with 72%25 peak power-addedefficiency

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