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Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 7, p. 688, doi. 10.1093/molehr/8.7.688
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- Publication type:
- Article
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination.
- Published in:
- Molecular Human Reproduction, 2001, v. 7, n. 5, p. 489, doi. 10.1093/molehr/7.5.489
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- Publication type:
- Article
Increasing the denaturation temperature during the first cycles of amplification reduced allele dropout from single cells for preimplantation genetic diagnosis.
- Published in:
- Molecular Human Reproduction, 1996, v. 2, n. 3, p. 213, doi. 10.1093/molehr/2.3.213
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- Publication type:
- Article
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3664, doi. 10.3390/ijms24043664
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- Publication type:
- Article
New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2559, doi. 10.3390/ijms24032559
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- Publication type:
- Article
Treatment of Mouse Sperm with a Non-Catalytic Mutant of PLA2G10 Reveals That PLA2G10 Improves In Vitro Fertilization through Both Its Enzymatic Activity and as Ligand of PLA2R1.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8033, doi. 10.3390/ijms23148033
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- Publication type:
- Article
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2187, doi. 10.3390/ijms22042187
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- Publication type:
- Article
Paternal transcripts for glucose-6-phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the Three- to Four-Cell stage.
- Published in:
- Molecular Reproduction & Development, 1997, v. 48, n. 4, p. 442, doi. 10.1002/(SICI)1098-2795(199712)48:4<442::AID-MRD4>3.0.CO;2-Q
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- Publication type:
- Article
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- 2021
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- Publication type:
- Correction Notice
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1031, doi. 10.1007/s00439-021-02270-7
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- Publication type:
- Article
The genetic architecture of morphological abnormalities of the sperm tail.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 21, doi. 10.1007/s00439-020-02113-x
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- Publication type:
- Article
Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum.
- Published in:
- Basic & Clinical Andrology, 2019, v. 29, n. 1, p. N.PAG, doi. 10.1186/s12610-019-0083-9
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- Publication type:
- Article
The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review.
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- Basic & Clinical Andrology, 2018, v. 28, n. 1, p. N.PAG, doi. 10.1186/s12610-018-0072-4
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- Publication type:
- Article
Spermaurin, an La1-like peptide from the venom of the scorpion Scorpio maurus palmatus, improves sperm motility and fertilization in different mammalian species.
- Published in:
- Molecular Human Reproduction, 2017, v. 23, n. 2, p. 116, doi. 10.1093/molehr/gaw075
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- Publication type:
- Article
Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY 19L2-deficient sperm are consistent with its role in oocyte activation.
- Published in:
- Molecular Human Reproduction, 2015, v. 21, n. 2, p. 157, doi. 10.1093/molehr/gau098
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- Publication type:
- Article
Dpy1912-deficient globozoospermic spermdisplay altered genome packaging and DNA damage that compromises the initiation of embryo development.
- Published in:
- Molecular Human Reproduction, 2015, v. 21, n. 2, p. 169, doi. 10.1093/molehr/gau099
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- Publication type:
- Article
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.
- Published in:
- Molecular Human Reproduction, 2011, v. 17, n. 12, p. 762, doi. 10.1093/molehr/gar050
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- Publication type:
- Article
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450
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- Publication type:
- Article
Échec de maturation ovocytaire: Un rôle essentiel pour la protéine PATL2 dans l'ovogenèse.
- Published in:
- Médecine Sciences, 2018, v. 34, n. 12, p. 1042, doi. 10.1051/medsci/2018287
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- Publication type:
- Article
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.
- Published in:
- Nature Genetics, 2007, v. 39, n. 5, p. 661, doi. 10.1038/ng2027
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- Publication type:
- Article
Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 1, p. 81, doi. 10.1002/pd.496
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- Publication type:
- Article
Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 4, p. 279, doi. 10.1002/pd.55
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- Publication type:
- Article
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 13, p. 1048, doi. 10.1002/1097-0223(200012)20:13<1048::AID-PD975>3.0.CO;2-8
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- Publication type:
- Article
Successful preimplantation genetic diagnosis for sex linked Lesch-Nyhan syndrome using specific diagnosis.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 13, p. 1237, doi. 10.1002/(SICI)1097-0223(199912)19:13<1237::AID-PD726>3.0.CO;2-O
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- Publication type:
- Article
Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the ΔF508 deletion causing cystic fibrosis in clinical practice.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 13, p. 1402, doi. 10.1002/(SICI)1097-0223(199812)18:13<1402::AID-PD500>3.0.CO;2-T
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- Publication type:
- Article
Dynamics of Sun5 Localization during Spermatogenesis in Wild Type and Dpy19l2 Knock-Out Mice Indicates That Sun5 Is Not Involved in Acrosome Attachment to the Nuclear Envelope.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0118698
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- Publication type:
- Article
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 298, doi. 10.1007/s00439-003-1063-9
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- Publication type:
- Article
Oligogenic heterozygous inheritance of sperm abnormalities in mouse.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.75373
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- Publication type:
- Article
Pantoprazole, a proton‐pump inhibitor, impairs human sperm motility and capacitation in vitro.
- Published in:
- Andrology, 2020, v. 8, n. 6, p. 1795, doi. 10.1111/andr.12855
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- Publication type:
- Article
Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
- Published in:
- 2019
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- Publication type:
- journal article
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
- Published in:
- 2018
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- Publication type:
- journal article
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
- Published in:
- 2016
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- Publication type:
- journal article
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
- Published in:
- 2016
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- Publication type:
- journal article
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
- Published in:
- Human Reproduction, 2012, v. 27, n. 8, p. 2549, doi. 10.1093/humrep/des160
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- Publication type:
- Article
Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China".
- Published in:
- Asian Journal of Andrology, 2016, v. 18, n. 5, p. 812, doi. 10.4103/1008-682X.164195
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- Publication type:
- Article
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
- Published in:
- Asian Journal of Andrology, 2015, v. 17, n. 1, p. 68, doi. 10.4103/1008-682X.13644
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- Publication type:
- Article
La génétique de l'infertilité masculine.
- Published in:
- Médecine de la Reproduction, 2024, v. 26, n. 2, p. 168, doi. 10.1684/mte.2024.1005
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- Publication type:
- Article
Les avancées génétiques et les perspectives thérapeutiques pour l'infertilité masculine.
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- Médecine de la Reproduction, 2022, v. 24, n. 2, p. 168, doi. 10.1684/mte.2022.0893
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- Publication type:
- Article
Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non‐obstructive azoospermia in an Iranian family.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 625, doi. 10.1111/cge.14584
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- Publication type:
- Article
CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 3, p. 317, doi. 10.1111/cge.14459
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- Publication type:
- Article
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 220, doi. 10.1111/cge.14450
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- Publication type:
- Article
Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 612, doi. 10.1111/cge.14284
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- Publication type:
- Article
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 22, doi. 10.1111/cge.14144
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- Publication type:
- Article
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 684, doi. 10.1111/cge.13927
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- Publication type:
- Article
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 394, doi. 10.1111/cge.13604
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- Publication type:
- Article
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 575, doi. 10.1111/cge.13449
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- Publication type:
- Article
Ethics and genetics of carrier embryos.
- Published in:
- Human Reproduction, 2006, v. 21, n. 10, p. 2722, doi. 10.1093/humrep/del237
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- Publication type:
- Article
Is preimplantation genetic diagnosis for 'social sexing' desirable in today's and tomorrow's society?
- Published in:
- Human Reproduction, 2003, v. 18, n. 2, p. 463, doi. 10.1093/humrep/deg063
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- Publication type:
- Article
The place of 'social sexing' in medicine and science.
- Published in:
- 2002
- By:
- Publication type:
- commentary