Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency

[1]  E. Ricci,et al.  The variability of SMCHD1 gene in FSHD patients: evidence of new mutations , 2019, Human molecular genetics.

[2]  M. Lamers,et al.  SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain , 2019, Journal of Medical Genetics.

[3]  S. Tapscott,et al.  FSHD type 2 and Bosma arhinia microphthalmia syndrome , 2018, Neurology.

[4]  Shifeng Xue,et al.  FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function , 2018, The Journal of Biological Chemistry.

[5]  Jacques Young,et al.  GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing. , 2018, European journal of endocrinology.

[6]  Cristina Has,et al.  Faculty of 1000 evaluation for Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. , 2018 .

[7]  A. Topaloğlu Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism , 2017, Journal of clinical research in pediatric endocrinology.

[8]  Alec M DeSimone,et al.  Facioscapulohumeral Muscular Dystrophy. , 2017, Comprehensive Physiology.

[9]  M. Blewitt,et al.  The Epigenetic Regulator SMCHD1 in Development and Disease. , 2017, Trends in genetics : TIG.

[10]  A. Wilkie Many faces of SMCHD1 , 2017, Nature Genetics.

[11]  Asif Javed,et al.  De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development , 2017, Nature Genetics.

[12]  Ryan L. Collins,et al.  SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome , 2017, Nature Genetics.

[13]  Ryan E. Mills,et al.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. , 2016, Endocrine reviews.

[14]  N. Brockdorff,et al.  Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome , 2015, Molecular and Cellular Biology.

[15]  U. Kaiser,et al.  A new pathway in the control of the initiation of puberty: the MKRN3 gene. , 2015, Journal of molecular endocrinology.

[16]  Wolfram Kress,et al.  Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1 , 2014, European Journal of Human Genetics.

[17]  O. King,et al.  Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing , 2014, Clinical Epigenetics.

[18]  F. Di Salle,et al.  Brain Changes in Kallmann Syndrome , 2014, American Journal of Neuroradiology.

[19]  M. Gasperi,et al.  A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. , 2014, Gene.

[20]  G. Kay,et al.  Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation , 2013, Epigenetics & Chromatin.

[21]  N. Brockdorff,et al.  Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes , 2013, Molecular and Cellular Biology.

[22]  T. Tajima,et al.  Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations , 2013, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

[23]  H. Kimura,et al.  Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway , 2013, Nature Structural &Molecular Biology.

[24]  Daniel G. Miller,et al.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 , 2012, Nature Genetics.

[25]  S. Radovick,et al.  Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. , 2012, The Journal of clinical endocrinology and metabolism.

[26]  C. Tei,et al.  Concordant and discordant adrenocorticotropin (ACTH) responses induced by growth hormone-releasing peptide-2 (GHRP-2), corticotropin-releasing hormone (CRH) and insulin-induced hypoglycemia in patients with hypothalamopituitary disorders: evidence for direct ACTH releasing activity of GHRP-2. , 2010, Endocrine journal.

[27]  M. Dattani,et al.  Septo-optic dysplasia , 2010, European Journal of Human Genetics.

[28]  R. Lovell-Badge,et al.  Genetic regulation of pituitary gland development in human and mouse. , 2009, Endocrine reviews.

[29]  M. Dattani,et al.  The Role of SOX2 in Hypogonadotropic Hypogonadism , 2008, Sexual Development.

[30]  Y. Wada,et al.  Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype. , 1994, Human molecular genetics.

[31]  J E Hewitt,et al.  FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. , 1993, Human molecular genetics.

[32]  Jacques Young,et al.  Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing , 2018 .