Cover Image

Investigation of <it>KIT</it> gene mutations in women with 46,XX spontaneous premature ovarian failure

<p>Abstract</p> <p>Background</p> <p>Spontaneous premature ovarian failure presents most commonly with secondary amenorrhea. Young women with the disorder are infertile and experience the symptoms and sequelae of estrogen deficiency. The mechanisms that give rise to spo...

Full description

Saved in:

Bibliographic Details
Main Authors:	Nelson Lawrence M (Author), Vanevski Konstantina (Author), Vanderhoof Vien H (Author), Tong Zhi-Bin (Author), Shibanuma Kyoko (Author)
Format:	Book
Published:	BMC, 2002-08-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Screening for known mutations in <it>EIF2B </it>genes in a large panel of patients with premature ovarian failure
by: Bakalov Vladimir K, et al.
Published: (2004)

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia
by: Lee Kuei-Fang, et al.
Published: (2012)

Ovarian antibodies as detected by indirect immunofluorescence are unreliable in the diagnosis of autoimmune premature ovarian failure: a controlled evaluation
by: Nelson Lawrence M, et al.
Published: (2003)

46XX testicular disorder of sex development
by: Krishna Chaitanya Mantravadi, et al.
Published: (2021)

46XX testicular disorder of sex development
by: Aasim N Maldar, et al.
Published: (2022)

Craniofacial morphology in males with 46,XX chromosomal constitution
by: Šćepan Ivana, et al.
Published: (2003)

Clinical Characteristics of 46,XX Males with Congenital Adrenal Hyperplasia
by: Şenay Savaş-Erdeve, et al.
Published: (2021)

46, XX testicular disorder of sex development: A case report
by: Krishnachaitanya Mantravadi
Published: (2022)

Yolk Sac Tumor of the Ovary in Mosaic 46XX Turner Syndrome
by: Suryawan AZ, et al.
Published: (2024)

Characterization of KIT mutation in melanoma
by: Chi-Yuan Tzen, et al.
Published: (2014)

Mosaic 46,XX,der(9)t(9;13)(p24;q12)/46,XX at amniocentesis can be a culture artefact and associated with a favorable fetal outcome
by: Chih-Ping Chen
Published: (2023)

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism
by: Malgorzata A. Krawczyk, et al.
Published: (2022)

Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review
by: Shaohua Sun, et al.
Published: (2019)

A 46,XX Male Adolescent Presenting with a Chief Complaint of Gynecomastia
by: Min Sun Kim, et al.
Published: (2015)

A 46,XX karyotype in men with infertility: Two new cases and review of the literature
by: Elisavet Kouvidi, et al.
Published: (2022)

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis
by: Leilei Ding, et al.
Published: (2024)

A Korean boy with 46,XX testicular disorder of sex development caused by duplication
by: Gyung Min Lee, et al.
Published: (2014)

Gender dysphoria in 46,XX persons with adrenogenital syndrome raise as females. A correction.
by: Ricardo eGonzález, et al.
Published: (2015)

Prenatal Diagnosis of 46,XX,der(13;21)(q10;q10),+21 and Transient Abnormal Myelopoiesis in a Fetus with Hepatosplenomegaly and Spontaneous Resolution of Fetal Ascites
by: Chih-Ping Chen, et al.
Published: (2009)

A case report of spontaneous pregnancy during hormonal replacement therapy for premature ovarian failure
by: Mahbod Ebrahimi, et al.
Published: (2011)

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome
by: Sriharibabu Manne, et al.
Published: (2016)

Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome
by: Chih-Ping Chen, et al.
Published: (2022)

Congenital malformation of fetus in a pregnancy following spontaneous ovulation in a case of premature ovarian failure
by: Priya Selvaraj, et al.
Published: (2010)

Spontaneous pregnancy in a patient with premature ovarian failure after ovarian platelet-rich plasma injection. Case report
by: Elizaveta E. Kraevaya, et al.
Published: (2021)

Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure
by: Zhou Sirui, et al.
Published: (2011)

Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birth
by: Chih-Ping Chen
Published: (2024)

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene
by: Samim Özen, et al.
Published: (2020)

A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens
by: Ganbayar Batmunkh, et al.
Published: (2021)

Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report
by: N. Bousfiha, et al.
Published: (2010)

Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report
by: Pedro Alí Díaz-Véliz Jiménez, et al.
Published: (2013)

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus
by: André Travessa, et al.
Published: (2017)

Mutation of KIT in cellular extraskeletal myxoid chondrosarcoma: a case report and literature review
by: Chen Wang, et al.
Published: (2022)

Pitfalls in mutational testing and reporting of common <it>KIT </it>and <it>PDGFRA </it>mutations in gastrointestinal stromal tumors
by: Penzel Roland, et al.
Published: (2010)

A Rare Case of Rudimentary Uterus With Absence of Both Ovaries and 46,XX Normal Karyotype Without Mosaicism
by: Murat Dede, et al.
Published: (2008)

Prenatal diagnosis and genetic counseling of 45,X/46,XX low-level mosaicism with a favorable outcome
by: Xia Gao, et al.
Published: (2024)

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review
by: Jiansheng Wei, et al.
Published: (2022)

45,X/46,XX at amniocentesis associated with a favorable outcome and postnatal decrease of the 45,X cell line
by: Chih-Ping Chen, et al.
Published: (2022)

An unusual case of type a posterior cloaca associated with 46xx disorder of sexual differentiation with y duplication of urethra
by: Rahul K Gupta, et al.
Published: (2022)

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome
by: Meriem BAZIZ, et al.
Published: (2016)

Review papers The role of KIT gene mutations in pathogenesis of pediatric mastocytosis
by: Joanna Dawicka, et al.
Published: (2015)