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CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Human molecular genetics, 2015-04, Vol.24 (8), p.2267-2273

2015

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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Clinical genetics, 2014-06, Vol.85 (6), p.562-567

2014

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A rare variant of dyskeratosis congenita: RTEL1 defect

Hematology, Transfusion and Cell Therapy, 2020-10, Vol.42, p.68-69

2020

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Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

Human molecular genetics, 1997-04, Vol.6 (4), p.641-647

1997

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Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

Clinical genetics, 2009-07, Vol.76 (1), p.85-90

2009

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Impairment of interleukin 11 signaling as a novel pathomechanism underlying Crouzon-like syndrome and pansynostosis

International journal of oral and maxillofacial surgery, 2015-10, Vol.44, p.e126-e126

2015

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Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

American journal of human genetics, 1998-03, Vol.62 (3), p.573-584

1998

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Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

British journal of ophthalmology, 2008-01, Vol.92 (1), p.135-142

2008

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Next-generation sequencing identifies mutations in Lrp2 as a cause for syndromic craniosynostosis

International journal of oral and maxillofacial surgery, 2013-10, Vol.42 (10), p.1243-1244

2013

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A Second Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region

Human molecular genetics, 1996-08, Vol.5 (8), p.1199-1203

1996

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Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

Genomics (San Diego, Calif.), 1995-11, Vol.30 (2), p.171-177

1995

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P.3.006 The relationship between 5-HTTLPR polymorphism and hippocampal volumes in medication-free depressed patients

European neuropsychopharmacology, 2010, Vol.20, p.S66-S67

2010

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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.39-44

2001

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Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder

American journal of human genetics, 2003-07, Vol.73 (1), p.49-62

2003

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P.1.a.013 The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients

European neuropsychopharmacology, 2008, Vol.18, p.S209-S210

2008

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Disruption of a Long-Range Cis-Acting Regulator for Shh Causes Preaxial Polydactyly

Proceedings of the National Academy of Sciences - PNAS, 2002-05, Vol.99 (11), p.7548-7553

2002

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Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

Journal of medical genetics, 1999-01, Vol.36 (1), p.33-40

1999

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Nature genetics, 2000-08, Vol.25 (4), p.423-426

2000

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DMP05 Genetic analysis of a large family with idiopathic congenital motor nystagmus reveals a novel missense mutation

European journal of paediatric neurology, 2007, Vol.11, p.78-78

2007

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Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families

Human molecular genetics, 1996-07, Vol.5 (7), p.945-952

1996

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Three patients resembling Teebi-Shaltout syndrome

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2570-2575

2013

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Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Journal of medical genetics, 1998-10, Vol.35 (10), p.868-874

1998

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Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity

Neuropediatrics, 1998-08, Vol.29 (4), p.189-194

1998

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PW01-004 – The sequence analysis in E148Q homozygous patients

Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A57-A57, Article A57

2013

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DACH: Genomic Characterization, Evaluation as a Candidate for Postaxial Polydactyly Type A2, and Developmental Expression Pattern of the Mouse Homologue

Genomics (San Diego, Calif.), 2001-09, Vol.77 (1-2), p.18-26

2001

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CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

A rare variant of dyskeratosis congenita: RTEL1 defect

Identification of Three Different Truncating Mutations in Cytochrome P4501B1 (CYP1B1) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

Impairment of interleukin 11 signaling as a novel pathomechanism underlying Crouzon-like syndrome and pansynostosis

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Next-generation sequencing identifies mutations in Lrp2 as a cause for syndromic craniosynostosis

A Second Locus (GLC3B) for Primary Congenital Glaucoma (Buphthalmos) Maps to the 1p36 Region

Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity

P.3.006 The relationship between 5-HTTLPR polymorphism and hippocampal volumes in medication-free depressed patients

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder

P.1.a.013 The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients

Disruption of a Long-Range Cis-Acting Regulator for Shh Causes Preaxial Polydactyly

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

DMP05 Genetic analysis of a large family with idiopathic congenital motor nystagmus reveals a novel missense mutation

Genomic Structure of HOXD13 Gene: A Nine Polyalanine Duplication Causes Synpolydactyly in Two Unrelated Families

Three patients resembling Teebi-Shaltout syndrome

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity

PW01-004 – The sequence analysis in E148Q homozygous patients

DACH: Genomic Characterization, Evaluation as a Candidate for Postaxial Polydactyly Type A2, and Developmental Expression Pattern of the Mouse Homologue

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