Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization (Q38238162)

31 August 2017

title

Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization (English)

1 reference

31 August 2017

Miguel Reyes-Múgica

4

1 reference

ORCID Public Data File 2021

author name string

Manuel Nistal

series ordinal

1

1 reference

31 August 2017

Ricardo Paniagua

series ordinal

2

1 reference

31 August 2017

Pilar González-Peramato

series ordinal

3

1 reference

31 August 2017

publication date

8 August 2014

1 reference

Pediatric and Developmental Pathology

31 August 2017

published in

1 reference

31 August 2017

volume

18

1 reference

31 August 2017

issue

4

1 reference

31 August 2017

page(s)

279-296

1 reference

Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones

31 August 2017

cites work

1 reference

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Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

21 January 2018

1 reference

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StAR protein and the regulation of steroid hormone biosynthesis

21 January 2018

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Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Disorders of androgen synthesis--from cholesterol to dehydroepiandrosterone

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Abnormal sex differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Lipoid congenital adrenal hyperplasia: pathologic features of the testis

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Congenital lipoid adrenal hyperplasia in an eight-year-old phenotypic female

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

New developments in congenital lipoid adrenal hyperplasia and steroidogenic acute regulatory protein

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Defects of the testosterone biosynthetic pathway in boys with hypospadias

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

17-hydroxylation deficiency in man

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Pubertal delay, hypokalemia, and hypertension caused by a rare form of congenital adrenal hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Ambiguous genitalia, small genitalia and undescended testes

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism due to 17,20-desmolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Endocrine findings in male pseudohermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism due to deficiency of testicular 17-ketosteroid reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male Pseudohermaphroditism Secondary to 17β-Hydroxysteroid Dehydrogenase Deficiency: Gender Role Change with Puberty*

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Ultrastructural analysis of the testes in male pseudohermaphrodism reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Leydig-cell agenesis: a cause of male pseudohermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Leydig Cell Hypoplasia: A Cause of Male Pseudohermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Leydig cell hypogenesis: a rare cause of male pseudohermaphroditism and a pathological model for the understanding of normal sexual differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Diseases associated with mutations of the human lutropin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Biological effect of a novel mutation in the third leucine-rich repeat of human luteinizing hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Naturally occurring mutations of the luteinizing hormone receptor gene affecting reproduction

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Molecular basis of androgen insensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Molecular Cloning of Human and Rat Complementary DNA Encoding Androgen Receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Advances in the pathology of intersex conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

The syndromes of androgen resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Syndromes of androgen resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

21 January 2018

Androgen insensitivity.

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

The androgen receptor gene mutations database.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

ANDROGEN RECEPTOR POINT MUTATIONS AS THE UNDERLYING MOLECULAR DEFECT IN 2 PATIENTS WITH ANDROGEN INSENSITIVITY SYNDROME

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Genotype versus phenotype in families with androgen insensitivity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Mullerian hormone repression during early human testis development

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Immunohistochemical and ultrastructural study of Sertoli cells in androgen insensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Androgen insensitivity syndrome with serous gonadal cyst

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Bilateral incipient germ cell tumours of the testis in the incomplete testicular feminization syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Familial male pseudohermaphrodism with labial testes and partial feminization: endocrine studies and genetic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Altered hypothalamic-pituitary-testicular function in incomplete testicular feminization syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Incomplete testicular feminization

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Improvement of spermatogenesis after treatment with the antiestrogen tamoxifen in a man with the incomplete androgen insensitivity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Gynecomastia as a Familial Incomplete Male Pseudohermaphroditism Type 1: A Limited Androgen Resistance Syndrome*

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

21 January 2018

FAMILIAL GYNECOMASTIA.

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Variable androgen receptor levels in infertile men.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Frequency of androgen insensitivity in infertile phenotypically normal men.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

X-linked recessive bulbospinal neuronopathy: a report of ten cases

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Quinine-responsive muscle cramps in X-linked bulbospinal muscular atrophy Kennedy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Molecular pathology of the androgen receptor in male (in)fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Practical approach to steroid 5alpha-reductase type 2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Androgens and the Evolution of Male-Gender Identity among Male Pseudohermaphrodites with 5α-Reductase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Differences in testicular development between 5alpha-reductase 2 deficiency and isolated bilateral cryptorchidism

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Reversion of the differentiated phenotype and maturation block in Sertoli cells in pathological human testis.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Genetic disorders of cholesterol biosynthesis in mice and humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Molecular cloning and expression of the human delta7-sterol reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Alpha thalassaemia-mental retardation, X linked

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Gastrointestinal phenotype of ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Molecular-clinical spectrum of the ATR-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A new detection method for ATRX gene mutations using a mismatch-specific endonuclease

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Male pseudohermaphroditism resulting from Leydig cell hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A clinico-genetic investigation of Leydig cell hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

A Novel Androgen Receptor Mutation Resulting in Complete Androgen Insensitivity Syndrome and Bilateral Leydig Cell Hyperplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

Testicular feminization syndrome in the neonate

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F14-04-1465-PB.1

21 January 2018

Identifiers

DOI

10.2350/14-04-1465-PB.1

1 reference

31 August 2017

1 reference