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Department of justice opposes patents on isolated genes
Federal advisory committee on genetics devises final recommendations
In this issue
Introduction to growth and development in craniofacial anomalies symposium and society of craniofacial genetics abstracts
Cranial neural crest cells on the move: Their roles in craniofacial development
The Society of Craniofacial Genetics. Abstracts of the 2010 annual meeting
Common and rare variants in the PAX7 and VAX1 genes contribute to orofacial cleft etiology
Craniosynostotic rabbit polymerase chain reaction-suppression subtractive hybridization (PCR SSH)
Mining GWAS data to find etiologic variation common to NSCL/P and breast cancer
A multi-species conserved sequence located 9.7kb upstream of IRF6 is sufficient to recapitulate endogenous expression in epidermis, limb, and craniofacial tissues
Characterizing the craniofacial and dental phenotype of Costello syndrome patients
Do left and right unilateral coronal craniosynostoses result from the same biological processes?
FoxC1 plays a critical role in jaw patterning and the pathogenesis of syngnathia
Genetic variation on the X-chromosome and risk of isolated orofacial clefts
Parallel mechanisms of craniofacial, nasal, and olfactory epithelial development
Mutation screen of significant GWAS signal implicates ARHGAP29 in nonsyndromic cleft lip and/or palate
FaceBase-one year on
Effect of FGFR2 mutations on patterns of morphological integration in the skulls of Apert syndrome mouse models
In vitro response of human bone marrow stromal cells to BMP-2, Vit D3, and b-FGF: A potential therapy for bone regeneration in cleft palate
An integrated approach to craniofacial development
A paradoxical genotype-phenotype correlation for EFNB1 mutations: worse outcome in mosaic than constitutionally deficient males
Mutations of transforming growth factor β binding protein 4 (LTBP4) results in defective craniofacial extracellular matrix formation in patients with Urban-Rifkin-Davis syndrome
Developmental dynamics of craniofacial tissues and matrix
Interparietal bone ( Os Incae ) in craniosynostosis
In Memoriam Ihsan Dogramacı (1915-2010)
Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies
Back to the future: Proceedings from the 2010 NF Conference
Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
Pure and complete 12p trisomy due to a maternal centric fission of chromosome 12
Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients
Why is the construction: Hypoplastic left heart “syndrome” a misnomer? And: What is a syndrome, anyhow?
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome
Potocki-Lupski syndrome: An inherited dup(17)(p11.2p11.2) with hypoplastic left heart
Intragenic deletions of IL1RAPL1 : Report of two cases and review of the literature
Cerebrovasculopathy in NF1 associated with ocular and scalp defects
47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal
A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder
The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty
Fanconi-Bickel syndrome: Report of life history and successful pregnancy in an affected patient
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
Prenatal diagnosis and molecular characterization of two constitutional rings derived from one chromosome 22
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH
Novel L1CAM splice site mutation in a young male with L1 syndrome
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation
A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome
Cerebral dysgenesis does not exclude OFD I syndrome
Goldenhar syndrome phenotypes and 22q11 deletion