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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Clinical genetics, 2004-10, Vol.66 (4), p.333-340

2004

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Four families with loss of function mutations of the thyrotropin receptor

The journal of clinical endocrinology and metabolism, 1996-12, Vol.81 (12), p.4229-4235

1996

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Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world

Hormone research, 1992, Vol.38 (5-6), p.230

Toublanc, J E

1992

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Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences

Clinical endocrinology (Oxford), 1994-06, Vol.40 (6), p.733-742

1994

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Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Human mutation, 1999-01, Vol.14 (5), p.377-386

1999

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Modifications of Growth Hormone Secretion during Female Puberty

Annals of the New York Academy of Sciences, 1997-06, Vol.816 (1), p.60-75

TOUBLANC, J. E.

1997

Volltextzugriff (PDF)

Guidelines for neonatal screening programs for congenital hypothyroidism

Acta Paediatrica, 1999-12, Vol.88 (s432), p.13-14

Toublanc, JE

1999

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Psychological indications for treatment of tall stature in adolescent girls

Journal of pediatric endocrinology & metabolism : JPEM, 1997, Vol.10 (5), p.529

1997

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Résultats des tests nationaux d'évaluation (scolarité primaire) de CE2 et de 6e chez 73 élèves hypothyroïdiens congénitaux dépistés à la naissance

Archives de pédiatrie (Paris), 1998, Vol.5 (3), p.255-263

1998

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A possible common origin of Y-negativë human XX males and XX true hermaphrodites

Human genetics, 1990-03, Vol.84 (4), p.356-360

1990

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Growth of short normal children in puberty treated for 3 years with growth hormone alone or in association with gonadotropin-releasing hormone agonist

Hormone research, 1994-01, Vol.41 (5-6), p.177

1994

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Screening for Y-derived sex determining gene SRY in 40 patients with turner syndrome

The journal of clinical endocrinology and metabolism, 1992-11, Vol.75 (5), p.1289-1292

1992

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A thyroxine dosage of 8 μg/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism

European journal of pediatrics, 1997-02, Vol.156 (2), p.94-98

1997

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The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency

Acta endocrinologica (Copenhagen), 1989-06, Vol.120 (6), p.795

1989

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L'alphafoetoprotéine au cours de l'hypothyroïdie congénitale avant et sous traitement

Archives de pédiatrie (Paris), 1994, Vol.1 (10), p.872-878

1994

Volltextzugriff (PDF)

Etiologies of late puberty

Hormone research, 1991-01, Vol.36 (3-4), p.136

1991

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Gonadotropin and α-subunit secretion during long term pituitary suppression by D-Trp6-luteinizing hormone-releasing hormone microcapsules as treatment of precocious puberty

The journal of clinical endocrinology and metabolism, 1987-11, Vol.65 (5), p.946-953

1987

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Presence of an acid-labile alpha-interferon in sera from fetuses and children with congenital rubella

Journal of Clinical Microbiology, 1985-05, Vol.21 (5), p.775-778

1985

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Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene

Clinical endocrinology (Oxford), 1994-03, Vol.40 (3), p.297-302

1994

Volltextzugriff (PDF)

Three-year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation

Acta Paediatrica, 1998-05, Vol.87 (5), p.511-517

1998

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The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability

Hormone research, 1992-01, Vol.37 (6), p.236

1992

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Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation

European journal of pediatrics, 1993-01, Vol.152 Suppl 2 (S2), p.S70-S75

1993

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Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study

Hormone research, 1992-01, Vol.37 (1-2), p.54

1992

Volltextzugriff (PDF)

Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Hormone research, 2001-01, Vol.55 (4), p.201-205

2001

Volltextzugriff (PDF)

Traitement des pubertés précoces par un agoniste de la LH-RH (D-TRP6-LH-RH en microcapsules à libération prolongée)

Bulletin de l'Académie nationale de médecine, 1988-11, Vol.172 (8), p.1091-1098

1988

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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Four families with loss of function mutations of the thyrotropin receptor

Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences

Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Modifications of Growth Hormone Secretion during Female Puberty

Guidelines for neonatal screening programs for congenital hypothyroidism

Psychological indications for treatment of tall stature in adolescent girls

Résultats des tests nationaux d'évaluation (scolarité primaire) de CE2 et de 6e chez 73 élèves hypothyroïdiens congénitaux dépistés à la naissance

A possible common origin of Y-negativë human XX males and XX true hermaphrodites

Growth of short normal children in puberty treated for 3 years with growth hormone alone or in association with gonadotropin-releasing hormone agonist

Screening for Y-derived sex determining gene SRY in 40 patients with turner syndrome

A thyroxine dosage of 8 μg/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism

The effects of treatment combining an agonist of gonadotropin-releasing hormone with growth hormone in pubertal patients with isolated growth hormone deficiency

L'alphafoetoprotéine au cours de l'hypothyroïdie congénitale avant et sous traitement

Etiologies of late puberty

Gonadotropin and α-subunit secretion during long term pituitary suppression by D-Trp6-luteinizing hormone-releasing hormone microcapsules as treatment of precocious puberty

Presence of an acid-labile alpha-interferon in sera from fetuses and children with congenital rubella

Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene

Three-year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation

The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability

Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation

Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study

Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Traitement des pubertés précoces par un agoniste de la LH-RH (D-TRP6-LH-RH en microcapsules à libération prolongée)

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