[Double translocation 46, XX, t(2; 5), t(2; 18) with major reproduction problems]

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Clinical genetics·2016

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

Leukemia·2016

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

JIMD reports·2015

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

Prenatal diagnosis·2014

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

Prenatal diagnosis·2014

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Clinical genetics·2013

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

Journal de genetique humaine·1989

[Genetic mapping of chromosome X: known localizations].

Journal de genetique humaine·1989

[Animal models of gene therapy].

Journal de genetique humaine·1989

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

Journal de genetique humaine·1989

[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

Journal de genetique humaine·1989

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

Journal de genetique humaine·1989

Characterization of vaginal lactobacilli from South African women toward the development of a biotherapeutic to optimize the vaginal microbiome.

Applied and environmental microbiology·2026

Chagas Screening Among Active-Duty Servicewomen with a History of Pregnancy.

Military medicine·2026

Experiences and Lessons Learned Implementing Abortion Services at an Australian Sexual and Reproductive Health Service: A Mixed-Methods Study Using Normalisation Process Theory.

Journal of primary care & community health·2026

DEXA-Derived Body Fat Distribution and Its Correlation With Clinical, Anthropometric, Insulin Sensitivity, Metabolic, and Hormonal Parameters Among Kashmiri Polyendocrine Metabolic Ovarian Syndrome (PMOS) Women: A Cross-Sectional Study.

Cureus·2026

Overcoming Mechanical Blindness: Adaptive Surgical Instrument Design for the Heterogeneous Landscape of Uterine Fibroids.

Research (Washington, D.C.)·2026

Cushing syndrome manifested during pregnancy and diagnosed following a fragility fracture of the pelvis.

JCEM case reports·2026

Related Experiment Videos

[Double translocation 46, XX, t(2; 5), t(2; 18) with major reproduction problems]

Related Concept Videos

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].

[Genetic mapping of chromosome X: known localizations].

[Animal models of gene therapy].

[Frontonasal dysplasia or the median cleft face syndrome: a case report].

[Linkage disequilibrium and DNA markers associated with the gene for cystic fibrosis].

[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].

Characterization of vaginal lactobacilli from South African women toward the development of a biotherapeutic to optimize the vaginal microbiome.

Chagas Screening Among Active-Duty Servicewomen with a History of Pregnancy.

Experiences and Lessons Learned Implementing Abortion Services at an Australian Sexual and Reproductive Health Service: A Mixed-Methods Study Using Normalisation Process Theory.

DEXA-Derived Body Fat Distribution and Its Correlation With Clinical, Anthropometric, Insulin Sensitivity, Metabolic, and Hormonal Parameters Among Kashmiri Polyendocrine Metabolic Ovarian Syndrome (PMOS) Women: A Cross-Sectional Study.

Overcoming Mechanical Blindness: Adaptive Surgical Instrument Design for the Heterogeneous Landscape of Uterine Fibroids.

Cushing syndrome manifested during pregnancy and diagnosed following a fragility fracture of the pelvis.

Related Experiment Videos

[Double translocation 46, XX, t(2; 5), t(2; 18) with major reproduction problems]

Abstract:

Related Concept Videos

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