Published in Eur J Hum Genet on February 20, 2008
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab (2008) 1.92
The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nat Rev Endocrinol (2009) 1.81
Kallmann syndrome. Eur J Hum Genet (2008) 1.47
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment. Nat Rev Endocrinol (2015) 1.39
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. Endocr Rev (2010) 1.16
The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. Neuroendocrinology (2010) 1.15
Disorders of pubertal development. Dtsch Arztebl Int (2009) 1.05
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism. Nat Rev Endocrinol (2011) 0.98
New understandings of the genetic basis of isolated idiopathic central hypogonadism. Asian J Androl (2011) 0.96
PROK2/PROKR2 Signaling and Kallmann Syndrome. Front Endocrinol (Lausanne) (2013) 0.92
Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. Endocrinol Metab (Seoul) (2015) 0.83
The puzzles of the prokineticin 2 pathway in human reproduction. Mol Cell Endocrinol (2011) 0.79
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype. Sci Rep (2015) 0.76
Commentary: the year in endocrine genetics for basic scientists. Mol Endocrinol (2011) 0.75
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet (2006) 3.16
Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A (2007) 2.94
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet (2002) 2.39
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet (2003) 2.17
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development (2008) 2.09
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci (2007) 2.05
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet (2004) 2.04
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet (2003) 1.85
Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease. Arthritis Rheum (2005) 1.85
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum (2002) 1.67
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Kallmann syndrome. Eur J Hum Genet (2008) 1.47
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45
Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. Proc Natl Acad Sci U S A (2007) 1.41
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet (2006) 1.40
The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J (2006) 1.40
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. Nature (2008) 1.39
In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis. Blood (2002) 1.37
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. PLoS Genet (2012) 1.30
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells. Pflugers Arch (2009) 1.30
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A (2011) 1.30
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Hum Mol Genet (2008) 1.30
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord (2007) 1.28
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma. Hum Mol Genet (2007) 1.27
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med (2012) 1.26
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat (2005) 1.23
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J Cell Biol (2012) 1.16
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab (2003) 1.15
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet (2010) 1.14
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet (2013) 1.14
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat (2007) 1.13
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol (2006) 1.08
H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Invest Ophthalmol Vis Sci (2006) 1.07
An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet (2004) 1.06
Kallmann syndrome: fibroblast growth factor signaling insufficiency? J Mol Med (Berl) (2004) 1.04
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations. J Clin Endocrinol Metab (2007) 1.04
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum Mutat (2002) 1.02
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells. EMBO Mol Med (2009) 1.01
Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). Cogn Behav Neurol (2006) 1.01
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. Kidney Int (2002) 1.01
Translating molecular advances in fragile X syndrome into therapy: a review. J Clin Psychiatry (2014) 1.00
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. J Clin Invest (2010) 0.99
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Am J Med Genet A (2013) 0.99
Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape. Development (2010) 0.98
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism. Nat Rev Endocrinol (2011) 0.98
PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa. J Cell Sci (2005) 0.97
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol (2010) 0.97
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet (2013) 0.96
Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J Rheumatol (2008) 0.96
Non-disjunction of chromosome 13. Hum Mol Genet (2007) 0.94
Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord (2004) 0.92
Hajdu-Cheney syndrome and syringomyelia. Case report. J Neurosurg (2002) 0.90
Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant (2002) 0.89
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes. Eur J Hum Genet (2013) 0.89
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. J Clin Endocrinol Metab (2014) 0.89
Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. Neurobiol Aging (2013) 0.89
Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations. Front Horm Res (2010) 0.88
Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. Prenat Diagn (2010) 0.88
Longest form of CCTG microsatellite repeat in the promoter of the CD2BP1/PSTPIP1 gene is associated with aseptic abscesses and with Crohn disease in French patients. Dig Dis Sci (2010) 0.87
IFN-α and CD46 stimulation are associated with active lupus and skew natural T regulatory cell differentiation to type 1 regulatory T (Tr1) cells. Proc Natl Acad Sci U S A (2011) 0.87
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci (2003) 0.87
EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis (2014) 0.86
TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis. J Nephrol (2003) 0.85
A family with gastrointestinal amyloidosis associated with variant lysozyme. Gastroenterology (2002) 0.85
Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. J Rheumatol (2005) 0.84