Related references
Note: Only part of the references are listed.Split-hand/foot malformation - molecular cause and implications in genetic counseling
Anna Sowinska-Seidler et al.
JOURNAL OF APPLIED GENETICS (2014)
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Naeimeh Tayebi et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
Aleksander Jamsheer et al.
BMC MEDICAL GENETICS (2013)
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
Nicolas Simonis et al.
JOURNAL OF MEDICAL GENETICS (2013)
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome
K. Jarzabek et al.
ADVANCES IN MEDICAL SCIENCES (2012)
Three new patients with FATCO: Fibular agenesis with ectrodactyly
Tadeusz Bieganski et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Eva Klopocki et al.
JOURNAL OF MEDICAL GENETICS (2012)
Copy-Number Variations, Noncoding Sequences, and Human Phenotypes
Eva Klopocki et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 12 (2011)
Novel Mechanisms of Fibroblast Growth Factor Receptor 1 Regulation by Extracellular Matrix Protein Anosmin-1
Youli Hu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia
Ingo Kurth et al.
NATURE GENETICS (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
FGF signaling regulates mesenchymal differentiation and skeletal patterning along the limb bud proximodistal axis
Kai Yu et al.
DEVELOPMENT (2008)
The expanding panorama of split hand foot malformation
Donald Basel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Development of midline cell types and commissural axon tracts requires Fgfr1 in the cerebrum
S Tole et al.
DEVELOPMENTAL BIOLOGY (2006)
FGFR1 function at the earliest stages of mouse limb development plays an indispensable role in subsequent autopod morphogenesis
CL Li et al.
DEVELOPMENT (2005)
Conditional inactivation of Fgfr1 in mouse defines its role in limb bud establishment, outgrowth and digit patterning
JM Verheyden et al.
DEVELOPMENT (2005)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome -: art. no. e12
M Meins et al.
JOURNAL OF MEDICAL GENETICS (2005)
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes
M Faiyaz-Ul-Haque et al.
CLINICAL GENETICS (2005)
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
A Cariboni et al.
HUMAN MOLECULAR GENETICS (2004)
Pathogenesis of split-hand/split-foot malformation
PHG Duijf et al.
HUMAN MOLECULAR GENETICS (2003)
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
C Dodé et al.
NATURE GENETICS (2003)
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
FR Goodman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
H van Bokhoven et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Share Paper
