M. Kottler

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Y chromosome and aggression in strains of laboratory mice

P. Roubertoux, M. Carlier, M. Kottler, 1990, Behavior genetics.

A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.

N. Farid, C. Johnston, N. Lahlou, 2000, The Journal of clinical endocrinology and metabolism.

Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D

T. M. Nguyen, J. Garnier, J. Garnier, 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

O. Mäkitie, L. Rejnmark, M. Zillikens, 2018, Nature Reviews Endocrinology.

TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP‐Ib)

O. Mäkitie, P. Agretti, M. Tonacchera, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Fetal expression of GnRH and GnRH receptor genes in rat testis and ovary.

R. Counis, M. Kottler, M. Botté, 1998, The Journal of endocrinology.

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

J. Bacchetta, S. Lemoine, Glenville Jones, 2021, Frontiers in Endocrinology.

The genes for gonadotropin‐releasing hormone and its receptor are expressed in human breast with fibrocystic disease and cancer

Antoine Martin, R. Counis, M. Kottler, 1997, International journal of cancer.

Differential diagnosis of vitamin D–related hypercalcemia using serum vitamin D metabolite profiling

J. Gallagher, M. Uesugi, M. Konrad, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH)2D3 in Affected Patients

D. Cooper, J. Gallagher, Glenville Jones, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic Diseases of Vitamin D Metabolizing Enzymes.

Glenville Jones, K. Schlingmann, M. Kottler, 2017, Endocrinology and metabolism clinics of North America.

Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.

Glenville Jones, C. Marcelli, M. Kottler, 2017, Joint, bone, spine : revue du rhumatisme.

Hyperparathyroidism complicating CYP 24A1 mutations.

D. Huglo, F. Pattou, G. Lion, 2016, Annales d'endocrinologie.

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.

F. Bienaimé, A. Linglart, A. Ryckewaert, 2015, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.

E. Mallet, M. Castanet, M. Kottler, 2013, The Journal of pediatrics.

Pseudohypoparathyroidism type 1 B associated with assisted reproductive technology

V. Mericq, H. Jüppner, C. Castiglioni, 2017 .

Pseudohypoparathyroidism type 1B associated with assisted reproductive technology

V. Mericq, H. Jüppner, C. Castiglioni, 2017, Journal of pediatric endocrinology & metabolism : JPEM.

[Epigenetics and pseudohypoparathyroidism].

M. Kottler, N. Coudray, N. Richard, 2010, Pathologie-biologie.

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.

H. Jüppner, Stéphanie Maupetit-Méhouas, A. Linglart, 2015, The Journal of clinical endocrinology and metabolism.

Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme.

Y. Reznik, M. Herrou, A. Benhaim, 2003, European journal of endocrinology.

Resistance to epinephrine and hypersensitivity (hyperresponsiveness) to CB1 antagonists in a patient with pseudohypoparathyroidism type Ic.

P. Lecomte, J. Carel, A. Linglart, 2010, European journal of endocrinology.

Effect of testosterone on regulation of the level of sex steroid-binding protein mRNA in monkey (Macaca fascicularis) liver.

R. Counis, M. Kottler, H. Degrelle, 1990, Journal of molecular endocrinology.

Sex steroid-binding protein: identification and comparison of the primary product following cell-free translation of human and monkey (Macaca fascicularis) liver RNA.

R. Counis, M. Kottler, H. Degrelle, 1989, Journal of steroid biochemistry.

Is vitamin D a key factor in muscle health?

M. Kottler, 2013, Endocrinology.

Activating mutations of the calcium-sensing receptor: management of hypocalcemia.

E. Brown, M. Garabédian, A. Lienhardt, 2001, The Journal of clinical endocrinology and metabolism.

De novo 15q13.3 microdeletion with cryptogenic west syndrome

J. Andrieux, M. Gérard, G. Plessis, 2013, American journal of medical genetics. Part A.

Relationships between androgen and estrogen sulfates in breast cyst fluid.

M. Kottler, K. Nahoul, 1992, Clinica chimica acta; international journal of clinical chemistry.

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Glenville Jones, G. Weryha, P. Journeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Lipoprotein Lipase Activity and Common Gene Variants in Severely Hypertriglyceridemic Patients with and without Diabetes

P. Giral, E. Bruckert, L. Foubert, 2003, Hormone Research in Paediatrics.

A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSH.

P. Chanson, Jacques Young, I. Huhtaniemi, 2010, European journal of endocrinology.

KiSS-1 and GPR54 at the pituitary level: Overview and recent insights

S. Corvaisier, M. Kottler, E. Camacho, 2009, Peptides.

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

Stéphanie Maupetit-Méhouas, A. Linglart, V. Mariot, 2008, The Journal of clinical endocrinology and metabolism.

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

A. Munnich, G. Pinto, L. Faivre, 2005, European Journal of Human Genetics.

[Paternal GNAS mutations: Which phenotypes? What genetic counseling?].

M. Kottler, 2015, Annales d'endocrinologie.

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

H. Jüppner, M. Kottler, A. Molin, 2013, The Journal of clinical endocrinology and metabolism.

The expression of aromatase in gonadotropes is regulated by estradiol and gonadotropin-releasing hormone in a manner that differs from the regulation of luteinizing hormone.

S. Corvaisier, M. Kottler, G. Galmiche, 2006, Endocrinology.

The expression of aromatase in gonadotropes is regulated by estradiol and GnRH in a manner that differs from the regulation of LH Abbreviated title: regulation of aromatase expression in rat pituitary

S. Corvaisier, M. Kottler, G. Galmiche, 2006 .

Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR

S. Brennan, Glenville Jones, F. Feillet, 2016 .

Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.

V. Rohmer, F. Savagner, S. Bézieau, 2001, The Journal of clinical endocrinology and metabolism.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature

J. Andrieux, M. Gérard, G. Plessis, 2015, American journal of medical genetics. Part A.

[Overdose or hypersensitivity to vitamin D?].

F. Hmami, A. Bouharrou, M. Kottler, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.

P. Laudanski, S. Wołczyński, M. Kottler, 2003, Fertility and sterility.

GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.

J. Carel, E. Mallet, A. Linglart, 2002, The Journal of clinical endocrinology and metabolism.

Ultradian, circadian and seasonal variations of plasma progesterone and LH concentrations during the luteal phase.

F. Lévi, P. Valensi, C. Coussieu, 1989, Chronobiology international.

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.

J. Andrieux, N. Gruchy, M. Kottler, 2012, The Journal of clinical endocrinology and metabolism.

Aromatase Gene Expression and Regulation in the Female Rat Pituitary

S. Corvaisier, M. Kottler, G. Galmiche, 2006, Annals of the New York Academy of Sciences.

LH down-regulates gonadotropin-releasing hormone (GnRH) receptor, but not GnRH, mRNA levels in the rat testis.

R. Counis, M. Kottler, A. Bérault, 1999, The Journal of endocrinology.

The significance of the expression of ERRα as a potential biomarker in breast cancer

S. Wołczyński, S. Sułkowski, M. Kottler, 2009, The Journal of Steroid Biochemistry and Molecular Biology.

Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene.

R. Counis, F. Bergametti, M. Kottler, 1999, European journal of endocrinology.

Nucleotide sequence analysis of mRNAs predicts that rat pituitary and gonadal gonadotropin-releasing hormone receptor proteins have identical primary structure.

R. Counis, M. Kottler, M. Moumni, 1994, Biochemical and biophysical research communications.

Expression of gonadotropin-releasing hormone (GnRH) receptor gene is altered by GnRH agonist desensitization in a manner similar to that of gonadotropin beta-subunit genes in normal and castrated rat pituitary.

R. Counis, F. Bergametti, M. Kottler, 1995, Endocrinology.

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli–Leydig cell tumor: Identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor

P. Philibert, C. Sultan, B. Bilińska, 2007, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Effects of short-term GnRH agonist--human menopausal gonadotrophin stimulation in patients pre-treated with progestogen.

M. Attalah, B. Martin-Pont, M. Kottler, 1992, Human reproduction.

Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.

J. Andrieux, J. Weill, N. Lahlou, 2011, Endocrine journal.

A spontaneous and severe hyperstimulation of the ovaries revealing a gonadotroph adenoma.

R. Frydman, P. Touraine, S. Christin‐Maitre, 1998, The Journal of clinical endocrinology and metabolism.

The GnRH receptor gene is preferentially expressed in functioning gonadotroph adenomas and displays a Mae III polymorphism site

S. Christin‐Maitre, J. Mikol, N. Lahlou, 1998, Clinical endocrinology.

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.

S. Wołczyński, G. Plessis, R. Leśniewicz, 2012, Advances in medical sciences.

Gonadal and adrenal catheterization during adrenal suppression and gonadal stimulation in a patient with bilateral testicular tumors and congenital adrenal hyperplasia.

M. Sibony, P. Valensi, M. Combes-Moukhovsky, 1994, The Journal of clinical endocrinology and metabolism.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

F. Speleman, C. Petit, R. Coimbra, 2003, Nature Genetics.

Gonadotropin-releasing hormone and the control of gonadotrope function.

G. Garrel, J. Laverrière, R. Counis, 2005, Reproduction, nutrition, development.

The LIM-homeodomain proteins Isl-1 and Lhx3 act with steroidogenic factor 1 to enhance gonadotrope-specific activity of the gonadotropin-releasing hormone receptor gene promoter.

S. Rhodes, J. Laverrière, R. Counis, 2006, Molecular endocrinology.

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene.

D. Dewailly, C. Decanter, A. Boucher, 2002, Fertility and sterility.

Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.

P. Caron, S. Christin‐Maitre, N. Lahlou, 1999, The Journal of clinical endocrinology and metabolism.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

C. Petit, J. Hardelin, Jacques Young, 2006, PLoS genetics.

Mutations of the GnRH receptor gene: a new cause of autosomal-recessive hypogonadotropic hypogonadism.

R. Counis, P. Bouchard, M. Kottler, 1999, Archives of medical research.

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

K. Devriendt, G. Mortier, J. Hardelin, 2007, Human mutation.

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

H. Jüppner, Céline Ballandonne, N. Gruchy, 2019, Bone.

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

J. Gusella, R. Quinton, Hyung-Goo Kim, 2015, The Journal of clinical endocrinology and metabolism.

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse.

S. Wołczyński, P. von Theobald, M. Kottler, 2011, Folia histochemica et cytobiologica.

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

O. Mäkitie, J. Eisfeldt, D. Nilsson, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity

H. Jüppner, Ashley H. Shoemaker, A. Rothenbuhler, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

L. Faivre, J. Bacchetta, M. Gérard, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism

D. Tolédano, A. Bursztejn, M. Kottler, 2015, Hormone Research in Paediatrics.

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

A. Munnich, L. Faivre, V. Cormier-Daire, 2001, American journal of medical genetics.

A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.

E. Brown, J. Boulesteix, M. Garabédian, 2000, The Journal of clinical endocrinology and metabolism.

Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors.

S. Wołczyński, S. Sułkowski, M. Kottler, 2005, European journal of cancer.

Regulation of plasma corticosteroid-binding globulin in adult cynomolgus monkey (Macaca fascicularis) during different reproductive states.

J. Tardivel-Lacombe, M. Kottler, H. Degrelle, 1990, Journal of steroid biochemistry.

Human gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiency.

M. Kottler, M. Pura, M. H. Mittre Hervé, 2004, Human genetics.

Supernumerary marker chromosomes management in prenatal diagnosis

N. Gruchy, M. Kottler, M. Lebrun, 2008, American journal of medical genetics. Part A.

Opponent strain effect on eliciting attacks in NZB mice: Physiological correlates

M. Nosten-Bertrand, P. Roubertoux, M. Kottler, 1990, Physiology & Behavior.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

Identification of the primary translation product of the sex steroid-binding protein from monkey liver mRNA in a cell-free system.

J. Tardivel-Lacombe, R. Counis, M. Kottler, 1988, Biochimie.

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity† Short title: Distinct patterns of fetal and post-natal growth in GNAS-related disorders

H. Jüppner, A. Rothenbuhler, A. Linglart, 2018 .

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.

G. Pinto, D. Lacombe, J. Salles, 2010, The Journal of clinical endocrinology and metabolism.

Regulation of plasma sex-steroid-binding protein in adult cynomolgus monkeys (Macaca fascicularis) during different reproductive states.

J. Tardivel-Lacombe, J. Grenier, M. Kottler, 1988, Biology of Reproduction.

[Recent data on the gonadoliberin receptor and the neuropeptide control mechanisms for gene expression of gonadotropin hormones].

G. Garrel, R. Counis, F. Bergametti, 1993, Contraception, fertilite, sexualite.

Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Glenville Jones, G. Weryha, P. Journeau, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.

M. Castanet, M. Kottler, A. Molin, 2019, European journal of medical genetics.

Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.

M. Kottler, Sophie Christin-Maitre, Philippe Caron, 1999, The Journal of clinical endocrinology and metabolism.