G. Jedraszak

发表

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

K. Zerres, J. Oldenburg, P. Nürnberg, 2014 .

Is Hematopoietic Clonality of Indetermined Potential a Risk Factor for Pulmonary Embolism?

L. Garçon, J. Marolleau, S. Soudet, 2021, TH Open.

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

J. Thevenon, R. Nabbout, D. Ville, 2022, European journal of medical genetics.

Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral center

P. Tourneux, C. Gondry-Jouet, J. Gondry, 2018, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Risk factors for failed chorionic villus sampling: results of a 4-year retrospective study

F. Sergent, J. Gondry, J. Chevreau, 2020, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

J. Gondry, H. Sevestre, B. Demeer, 2014, American journal of medical genetics. Part A.

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

G. Leverger, F. Andreiuolo, L. Guerrini-Rousseau, 2015, Journal of Medical Genetics.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

J. Andrieux, M. Mathieu, J. Rochette, 2015, Annales d'endocrinologie.

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

J. Andrieux, M. Mathieu-Dramard, G. Morin, 2015, Case reports in genetics.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, European journal of medical genetics.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

J. Andrieux, J. Gondry, S. Chantot-Bastaraud, 2015, American journal of medical genetics. Part A.

New intragenic rearrangements in non‐Finnish mulibrey nanism

C. Vincent‐Delorme, J. Rochette, M. Mathieu-Dramard, 2017, American journal of medical genetics. Part A.

Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature

M. Benkhalifa, H. Copin, G. Jedraszak, 2015, Molecular Cytogenetics.

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

C. Gondry-Jouet, J. Gondry, C. Klein, 2017, American journal of medical genetics. Part A.

Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias

C. Preudhomme, L. Garçon, I. Luquet, 2021, Genes, chromosomes & cancer.

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Peter Nürnberg, Kerstin Konrad, Klaus Zerres, 2014, Human mutation.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

HDAC6 regulates human erythroid differentiation through modulation of JAK2 signalling

L. Garçon, J. Rochette, J. Marolleau, 2022, Journal of cellular and molecular medicine.

A severe prenatal presentation of Cat Eye Syndrome.

J. Andrieux, H. Sevestre, J. Rochette, 2013, Clinical Dysmorphology.

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation

A. Piton, M. Mathieu-Dramard, A. Le Moing, 2021, American journal of medical genetics. Part A.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

S. Heilmann-Heimbach, A. Dufke, M. Bonin, 2015, Molecular Cytogenetics.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature review.

F. Scheffler, C. Attencourt, G. Jedraszak, 2022, European journal of obstetrics, gynecology, and reproductive biology.

Use of ranolazine as rescue therapy in a patient with Timothy syndrome type 2

J. Hermida, G. Jedraszak, A. Hermida, 2021, Revista Española de Cardiología (English Edition).

Long-Term Follow-up of a Patient with Type 2 Timothy Syndrome and the Partial Efficacy of Mexiletine.

P. Berna, J. Hermida, G. Jedraszak, 2021, Gene.

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

J. Gondry, H. Sevestre, B. Demeer, 2014, American journal of medical genetics. Part A.