Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
|
Am J Hum Genet
|
2003
|
1.70
|
2
|
Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.
|
Am J Med Genet A
|
2004
|
1.59
|
3
|
CATSPER2, a human autosomal nonsyndromic male infertility gene.
|
Eur J Hum Genet
|
2003
|
1.54
|
4
|
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
|
Eur J Endocrinol
|
2006
|
1.36
|
5
|
Aetiological diagnosis of male sex ambiguity: a collaborative study.
|
Eur J Pediatr
|
2002
|
1.22
|
6
|
Molecular genetics of sex determination.
|
Semin Reprod Med
|
2002
|
1.18
|
7
|
The transcription factor Sox9 is degraded by the ubiquitin-proteasome system and stabilized by a mutation in a ubiquitin-target site.
|
Matrix Biol
|
2004
|
1.15
|
8
|
Genetic investigation of four meiotic genes in women with premature ovarian failure.
|
Eur J Endocrinol
|
2008
|
1.13
|
9
|
Aberrant expression of ovary determining gene FOXL2 in the testis and juvenile granulosa cell tumor in children.
|
J Urol
|
2008
|
1.08
|
10
|
Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.
|
J Clin Endocrinol Metab
|
2005
|
1.06
|
11
|
North African Jewish and non-Jewish populations form distinctive, orthogonal clusters.
|
Proc Natl Acad Sci U S A
|
2012
|
1.05
|
12
|
Disruption of the principal, progesterone-activated sperm Ca2+ channel in a CatSper2-deficient infertile patient.
|
Proc Natl Acad Sci U S A
|
2013
|
1.05
|
13
|
Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics.
|
Proc Natl Acad Sci U S A
|
2007
|
1.05
|
14
|
Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice.
|
Mech Dev
|
2009
|
1.05
|
15
|
An evolutionary and functional analysis of FoxL2 in rainbow trout gonad differentiation.
|
J Mol Endocrinol
|
2004
|
1.04
|
16
|
Genetic male infertility and mutation of CATSPER ion channels.
|
Eur J Hum Genet
|
2010
|
1.03
|
17
|
Extinction of FOXL2 expression in aggressive ovarian granulosa cell tumors in children.
|
Fertil Steril
|
2007
|
1.02
|
18
|
Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).
|
PLoS One
|
2010
|
1.00
|
19
|
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination.
|
Genomics
|
2002
|
0.99
|
20
|
Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development.
|
Hum Mol Genet
|
2007
|
0.97
|
21
|
The identification and characterization of a FOXL2 response element provides insights into the pathogenesis of mutant alleles.
|
Hum Mol Genet
|
2008
|
0.96
|
22
|
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
|
Hum Mutat
|
2008
|
0.94
|
23
|
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.
|
PLoS One
|
2012
|
0.91
|
24
|
Characterization of a putative type IV aminophospholipid transporter P-type ATPase.
|
Mamm Genome
|
2003
|
0.90
|
25
|
Identification of Quantitative Trait Loci responsible for embryonic lethality in mice assessed by ultrasonography.
|
Int J Dev Biol
|
2009
|
0.90
|
26
|
We request a serious reconsideration of the recent paper by Seralini et al. alleging tumorigenesis in rats resulting from consumption of corn derived from crops improved through biotechnology (Séralini et al., 2012).
|
Food Chem Toxicol
|
2012
|
0.89
|
27
|
The Human Y Chromosome: The Biological Role of a "Functional Wasteland"
|
J Biomed Biotechnol
|
2001
|
0.88
|
28
|
BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?
|
Clin Endocrinol (Oxf)
|
2009
|
0.87
|
29
|
Sense and antisense Foxl2 transcripts in mouse.
|
Genomics
|
2005
|
0.87
|
30
|
Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis.
|
Am J Phys Anthropol
|
2003
|
0.87
|
31
|
Recent advances in the study of genes involved in non-syndromic premature ovarian failure.
|
Mol Cell Endocrinol
|
2007
|
0.86
|
32
|
Recovery of female fertility after chemotherapy, irradiation, and bone marrow allograft: further evidence against massive oocyte regeneration by bone marrow-derived germline stem cells.
|
Stem Cells
|
2007
|
0.85
|
33
|
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.
|
Hum Mol Genet
|
2005
|
0.83
|
34
|
Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman.
|
Reprod Nutr Dev
|
2005
|
0.82
|
35
|
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
|
Hum Reprod
|
2013
|
0.82
|
36
|
Allelic reduction of Dlx5 and Dlx6 results in early follicular depletion: a new mouse model of primary ovarian insufficiency.
|
Hum Mol Genet
|
2011
|
0.82
|
37
|
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
|
Pediatr Endocrinol Rev
|
2005
|
0.81
|
38
|
FOXO3a variants in patients with premature ovarian failure.
|
Clin Endocrinol (Oxf)
|
2007
|
0.80
|
39
|
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure.
|
Clin Endocrinol (Oxf)
|
2009
|
0.79
|
40
|
Interspecific chromosome-wide transcription profiles reveal the existence of mammalian-specific and species-specific chromosome domains.
|
J Mol Evol
|
2004
|
0.79
|
41
|
Male-specific protein (MSP): a new gene linked to sexual behavior and aggressiveness of tilapia males.
|
Horm Behav
|
2008
|
0.78
|
42
|
CITED2 mutations potentially cause idiopathic premature ovarian failure.
|
Transl Res
|
2012
|
0.77
|
43
|
Gonad development in Drash and Frasier syndromes depends on WT1 mutations.
|
Arkh Patol
|
2004
|
0.77
|
44
|
Molecular aspects of female and male gonadal development in mammals.
|
Pediatr Endocrinol Rev
|
2004
|
0.77
|
45
|
The transcription factor FOXL2 in ovarian function and dysfunction.
|
Folia Histochem Cytobiol
|
2009
|
0.76
|
46
|
Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure.
|
Clin Endocrinol (Oxf)
|
2007
|
0.76
|
47
|
Distribution of Y chromosome lineages in Jerba island population.
|
Forensic Sci Int
|
2005
|
0.76
|
48
|
Pillars article: A protein tyrosine kinase in the interferon α/β signaling pathway. Cell. 1992. 70: 313-322.
|
J Immunol
|
2011
|
0.76
|
49
|
Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
|
Clin Endocrinol (Oxf)
|
2006
|
0.76
|
50
|
[Discussion].
|
Med Sci (Paris)
|
2015
|
0.75
|
51
|
[The genetics of sex determination].
|
J Soc Biol
|
2002
|
0.75
|
52
|
MHC class II-deficient tumor cell lines with a defective expression of the class II transactivator.
|
Int Immunol
|
2002
|
0.75
|
53
|
[Hermaphroditism pathology].
|
Ann Pathol
|
2004
|
0.75
|