Related references
Note: Only part of the references are listed.Position effects at the FGF8 locus are associated with femoral hypoplasia
Magdalena Socha et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
De novo 16p13.3-p12.3 duplication in a child with syndromic developmental delay
Laura Maria Duarte-Bueno et al.
GENE REPORTS (2020)
The Role of IFT140 in Osteogenesis of Adult Mice Long Bone
Dike Tao et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2019)
Expression of IFT140 During Bone Development
Chenyang Zhang et al.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2019)
A Conditional Knockout Mouse Model Reveals a Critical Role of PKD1 in Osteoblast Differentiation and Bone Development
Shao Li et al.
SCIENTIFIC REPORTS (2017)
Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature
Marshall I. B. Fontes et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Femoral Facial Syndrome Associated with a De Novo Complex Chromosome 2q37 Rearrangement
Malte Spielmann et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
James R. Priest et al.
PLOS GENETICS (2016)
Intellectual Disability Secondary to a 16p13 Duplication in a 1;16 Translocation. Extended Phenotype in a Four-Generation Family
Amal Mahmoud Mohamed et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
Anna Sowinska-Seidler et al.
JOURNAL OF APPLIED GENETICS (2015)
Skeletal Response of Male Mice to Anabolic Hormone Therapy in the Absence of the Igfals Gene
Oran D. Kennedy et al.
ENDOCRINOLOGY (2014)
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
Benedicte Demeer et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature
Zhuo Li et al.
GENE (2013)
Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
Kerry A. Miller et al.
PLOS GENETICS (2013)
Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies
Jin-Lan Chen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
16p SUBTELOMERIC DUPLICATION WITH VASCULAR ANOMALIES: AN ALBANIAN CASE REPORT AND LITERATURE REVIEW
A. Babameto-Laku et al.
BALKAN JOURNAL OF MEDICAL GENETICS (2012)
Nprl3 is required for normal development of the cardiovascular system
Monika S. Kowalczyk et al.
MAMMALIAN GENOME (2012)
Sex-Specific Regulation of Body Size and Bone Slenderness by the Acid Labile Subunit
Hayden-William Courtland et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Bernard Thienpont et al.
JOURNAL OF MEDICAL GENETICS (2010)
Expanding the Phenotype of Duplication of the Rubinstein-Taybi Region on 16p13.3
Bruno Dallapiccola et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
Horacio M. Domene et al.
HORMONE RESEARCH (2009)
A microduplication of CBP in a patient with mental retardation and a congenital heart defect
Bernard Thienpont et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review
Mascha K. Rochat et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13
T de Ravel et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2005)
Molecular rulers for calibrating phenotypic effects of telomere imbalance
CL Martin et al.
JOURNAL OF MEDICAL GENETICS (2002)
The human genome browser at UCSC
WJ Kent et al.
GENOME RESEARCH (2002)
Share Paper
