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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

Clinical genetics, 2018-10, Vol.94 (3-4), p.303-312

2018

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Journal of medical genetics, 2010-01, Vol.47 (1), p.8-21

2010

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Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2

American journal of human genetics, 1996-11, Vol.59 (5), p.1027-1034

1996

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Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency

American journal of neuroradiology : AJNR, 2008-01, Vol.29 (1), p.7-8

2008

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Emotion-related learning in individuals prenatally exposed to alcohol: an investigation of the relation between set shifting, extinction of responses, and behavior

Neuropsychologia, 2001, Vol.39 (7), p.699-708

2001

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Oncotarget, 2011-12, Vol.2 (12), p.1127-1133

2011

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980

2013

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A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families

Genomics (San Diego, Calif.), 1995-07, Vol.28 (2), p.311-314

1995

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Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

Genetics in medicine, 2009-03, Vol.11 (3), p.220-222

2009

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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

Pediatrics (Evanston), 2004-08, Vol.114 (2), p.451-457

2004

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Screening for Wilms Tumor in High-Risk Individuals

Hematology/oncology clinics of North America, 1995-12, Vol.9 (6), p.1253-1265

1995

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502 TRANSIENT MYELOPROLIFERATIVE DISORDER IN A NON-DOWN SYNDROME INFANT WITH BLAST CELL MOSAICISM FOR TRISOMY 21: WHAT IS THE RISK FOR LEUKEMIA AND PATHOGENESIS?

Journal of investigative medicine, 2005-01, Vol.53 (1), p.S166-S166

2005

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Clinical and molecular genetic features of ARC syndrome

Human genetics, 2006-10, Vol.120 (3), p.396-409

2006

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308 PITFALLS IN MEASURING THE PALPEBRAL FISSURE IN FETAL ALCOHOL SYNDROME: IS OUTER CANTHAL DISTANCE A BETTER PARAMETER?

Journal of investigative medicine, 2004-01, Vol.52 (Suppl 1), p.S133-S133

2004

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Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues

Pediatrics (Evanston), 1986-09, Vol.78 (3), p.451-457

1986

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Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy

The journal of clinical endocrinology and metabolism, 1999-09, Vol.84 (9), p.3254-3259

1999

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Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig

Genome research, 1995-11, Vol.5 (4), p.368-380

1995

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Congenital Ventral Hernia in Association with Focal Dermal Hypoplasia

Pediatric dermatology, 1995-12, Vol.12 (4), p.336-339

1995

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Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia

The Journal of pediatrics, 2003-08, Vol.143 (2), p.270-272

2003

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Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

American journal of medical genetics, 2003-11, Vol.123A (1), p.72-78

2003

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Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals

American journal of medical genetics, 2004-01, Vol.124A (2), p.158-164

2004

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Review of radiologic and clinical findings in the recombinant 8 syndrome

Pediatric radiology, 1991-02, Vol.21 (2), p.125-127

1991

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A new form of long QT syndrome associated with syndactyly

Journal of the American College of Cardiology, 1995-01, Vol.25 (1), p.59-64

1995

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Athabascan brainstem dysgenesis syndrome

American journal of medical genetics, 2003-07, Vol.120A (2), p.169-173

2003

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Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the Southwest

American journal of human genetics, 1992-10, Vol.51 (4), p.736-740

1992

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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2

Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency

Emotion-related learning in individuals prenatally exposed to alcohol: an investigation of the relation between set shifting, extinction of responses, and behavior

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

Screening for Wilms Tumor in High-Risk Individuals

502 TRANSIENT MYELOPROLIFERATIVE DISORDER IN A NON-DOWN SYNDROME INFANT WITH BLAST CELL MOSAICISM FOR TRISOMY 21: WHAT IS THE RISK FOR LEUKEMIA AND PATHOGENESIS?

Clinical and molecular genetic features of ARC syndrome

308 PITFALLS IN MEASURING THE PALPEBRAL FISSURE IN FETAL ALCOHOL SYNDROME: IS OUTER CANTHAL DISTANCE A BETTER PARAMETER?

Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues

Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig

Congenital Ventral Hernia in Association with Focal Dermal Hypoplasia

Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia

Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals

Review of radiologic and clinical findings in the recombinant 8 syndrome

A new form of long QT syndrome associated with syndactyly

Athabascan brainstem dysgenesis syndrome

Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the Southwest

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