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Genetic Diseases of Vitamin D Metabolizing Enzymes

Endocrinology and metabolism clinics of North America, 2017-12, Vol.46 (4), p.1095-1117

2017

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

Journal of bone and mineral research, 2018-08, Vol.33 (8), p.1480-1488

2018

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

Journal of bone and mineral research, 2020-05, Vol.35 (5), p.913-919

2020

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

Journal of bone and mineral research, 2017-09, Vol.32 (9), p.1893-1899

2017

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

Journal of bone and mineral research, 2015-05, Vol.30 (5), p.906-912

2015

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

Journal of bone and mineral research, 2021-07, Vol.36 (7), p.1340-1350

2021

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Kidney Function and Influence of Sunlight Exposure in Patients With Impaired 24-Hydroxylation of Vitamin D Due to CYP24A1 Mutations

American journal of kidney diseases, 2015-01, Vol.65 (1), p.122-126

2015

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

PLoS genetics, 2006-10, Vol.2 (10), p.e175-e175

2006

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

Frontiers in endocrinology (Lausanne), 2021-10, Vol.12, p.736240-736240

2021

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

Journal of bone and mineral research, 2017-04, Vol.32 (4), p.776-783

2017

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Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations

The Journal of pediatrics, 2013-10, Vol.163 (4), p.1208-1210

2013

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A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance

The journal of clinical endocrinology and metabolism, 2008-03, Vol.93 (3), p.661-665

2008

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

Peptides (New York, N.Y. : 1980), 2009, Vol.30 (1), p.123-129

2009

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

The journal of clinical endocrinology and metabolism, 2015-10, Vol.100 (10), p.E1378-E1385

2015

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Pseudo-hypoparathyroïdie et ses variants: Un succès de la médecine translationnelle

M.S. Médecine sciences, 2022-08, Vol.38 (8-9), p.655-662

Kottler, Marie-Laure

2022

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

American journal of medical genetics. Part A, 2015-01, Vol.167A (1), p.185-189

2015

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

European journal of endocrinology, 2010-03, Vol.162 (3), p.633-641

2010

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

Human mutation, 2007-01, Vol.28 (1), p.97-98

2007

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Is Vitamin D a Key Factor in Muscle Health?

Endocrinology (Philadelphia), 2013-11, Vol.154 (11), p.3963-3964

Kottler, Marie-Laure

2013

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De novo 15q13.3 microdeletion with cryptogenic west syndrome

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2582-2587

2013

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Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia

The journal of clinical endocrinology and metabolism, 2001-11, Vol.86 (11), p.5313-5323

2001

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Aromatase Gene Expression and Regulation in the Female Rat Pituitary

Annals of the New York Academy of Sciences, 2006-07, Vol.1070 (1), p.286-292

2006

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A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib

The journal of clinical endocrinology and metabolism, 2012-05, Vol.97 (5), p.E863-E867

2012

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

Journal of bone and mineral research, 2017-07, Vol.32 (7), p.1589-1596

2017

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

Bone (New York, N.Y.), 2019-06, Vol.123, p.145-152

2019

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Genetic Diseases of Vitamin D Metabolizing Enzymes

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

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

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

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

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

Kidney Function and Influence of Sunlight Exposure in Patients With Impaired 24-Hydroxylation of Vitamin D Due to CYP24A1 Mutations

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

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

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

Lightwood Syndrome Revisited with a Novel Mutation in CYP24 and Vitamin D Supplement Recommendations

A Maternal Epimutation of GNAS Leads to Albright Osteodystrophy and Parathyroid Hormone Resistance

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

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

Pseudo-hypoparathyroïdie et ses variants: Un succès de la médecine translationnelle

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

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

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

Is Vitamin D a Key Factor in Muscle Health?

De novo 15q13.3 microdeletion with cryptogenic west syndrome

Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia

Aromatase Gene Expression and Regulation in the Female Rat Pituitary

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib

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

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

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