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Identification of an Oolemmal Receptor for the Sperm Acrosomal Ligand, SLLP1

Biology of reproduction, 2008-05, Vol.78 (Suppl_1), p.69-69

2008

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Mammalian RNA Binding Proteins ECAT1 and HOEP19 Reveal Oocyte Prepatterning Locus

Biology of reproduction, 2008-05, Vol.78 (Suppl_1), p.163-163

2008

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CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath

Asian journal of andrology, 2011-03, Vol.13 (2), p.266-274

2011

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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

American journal of human genetics, 2010-08, Vol.87 (2), p.250-257

2010

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572-581

2015

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

American journal of human genetics, 2020-01, Vol.106 (1), p.26-40

2020

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Protection against cholera from killed whole-cell oral cholera vaccines: a systematic review and meta-analysis

The Lancet infectious diseases, 2017-10, Vol.17 (10), p.1080-1088

2017

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Small 4p16.3 deletions: Three additional patients and review of the literature

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2501-2508

2018

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Genetics in medicine, 2019-04, Vol.21 (4), p.867-876

2019

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Sexual Transmission of an HIV-1 Variant Resistant to Multiple Reverse-Transcriptase and Protease Inhibitors

The New England journal of medicine, 1998-07, Vol.339 (5), p.307-311

1998

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Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings

Clinical dysmorphology, 2014-01, Vol.23 (1), p.32-34

2014

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Genetics in medicine, 2019-03, Vol.21 (3), p.764-765

2019

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.75-75, Article 75

2013

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Glutathione metabolism and antioxidant enzymes in children with down syndrome

The Journal of pediatrics, 2003-05, Vol.142 (5), p.583-585

2003

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Immunogenicity of a multi-component recombinant human acrosomal protein vaccine in female Macaca fascicularis

Journal of reproductive immunology, 2008-04, Vol.77 (2), p.126-141

2008

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Hepatic fibrosis in Kabuki syndrome

American journal of medical genetics, 2004-01, Vol.124A (2), p.209-212

2004

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NMR Structure of the Single QALGGH Zinc Finger Domain from the Arabidopsis thaliana SUPERMAN Protein

Chembiochem : a European journal of chemical biology, 2003-03, Vol.4 (2-3), p.171-180

2003

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POLYMORPHIC CABYR EXPRESSED IN THE LATE STEPS OF SPERMIOGENESIS AND BINDS WITH AKAP3, AKAP4 AND ROPPORIN IN MOUSE SPERM FIBROUS SHEATH

The Journal of urology, 2008, Vol.179 (4), p.618-618

2008

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Identification of an Oolemmal Receptor for the Sperm Acrosomal Ligand, SLLP1

Mammalian RNA Binding Proteins ECAT1 and HOEP19 Reveal Oocyte Prepatterning Locus

CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Protection against cholera from killed whole-cell oral cholera vaccines: a systematic review and meta-analysis

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

A restricted spectrum of NRAS mutations causes Noonan syndrome

Small 4p16.3 deletions: Three additional patients and review of the literature

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Sexual Transmission of an HIV-1 Variant Resistant to Multiple Reverse-Transcriptase and Protease Inhibitors

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Glutathione metabolism and antioxidant enzymes in children with down syndrome

Immunogenicity of a multi-component recombinant human acrosomal protein vaccine in female Macaca fascicularis

Hepatic fibrosis in Kabuki syndrome

NMR Structure of the Single QALGGH Zinc Finger Domain from the Arabidopsis thaliana SUPERMAN Protein

POLYMORPHIC CABYR EXPRESSED IN THE LATE STEPS OF SPERMIOGENESIS AND BINDS WITH AKAP3, AKAP4 AND ROPPORIN IN MOUSE SPERM FIBROUS SHEATH

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

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