Y. Sznajer: search on Z-Library

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1

Iris heterochromia: A variable feature in Verloes–Koulischer-oral-acral syndrome

Inge B. Mathijssen, Jean-Pierre Fryns, Koen Devriendt, Yves Sznajer, Maurice Van Eygen

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 100 KB

english, 2005

2

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10deficiency

A. Aeby, Y. Sznajer, H. Cavé, E. Rebuffat, R. Van Coster, O. Rigal, P. Van Bogaert

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 174 KB

english, 2007

3

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Jia, Yaojuan, Louw, Jacoba J., Breckpot, Jeroen, Callewaert, Bert, Barrea, Catherine, Sznajer, Yves, Gewillig, Marc, Souche, Erika, Dehaspe, Luc, Vermeesch, Joris Robert, Lambrechts, Diether, Devriend

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 507 KB

english, 2015

4

Childhood hearing loss is a key feature of CAPOS syndrome: A case report

Paquay, Stéphanie, Wiame, Elsa, Deggouj, Naima, Boschi, Antonella, De Siati, Romolo Daniele, Sznajer, Yves, Nassogne, Marie-Cécile

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2018

Language:

english

File:

PDF, 593 KB

english, 2018

5

Sporadic case of trichorhinophalangeal syndrome type III in a European patient

Vilain, Catheline, Sznajer, Yves, Rypens, Fran�oise, D�sir, Daniel, Abramowicz, Marc J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 193 KB

english, 1999

6

Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p)

D. Geneviève, Y. Sznajer, M. Raoul, D. Sanlaville, A. Verloes, M.F. Portnoï, C. Bauman

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

7

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease

Yves Sznajer, Cristina Coldéa, Françoise Meire, Isabelle Delpierre, Tayeb Sekhara, Renaud L. Touraine

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

8

Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome

Judith Reiber, Yves Sznajer, Elena Guillén Posteguillo, Dietmar Müller, Stanislas Lyonnet, Clarisse Baumann, Walter Just

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 164 KB

english, 2010

9

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

Judith Reiber, Yves Sznajer, Elena Guillén Posteguillo, Dietmar Müller, Stanislas Lyonnet, Clarisse Baumann, Walter Just

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

10

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Ellen Denayer, Koen Devriendt, Thomy de Ravel, Griet Van Buggenhout, Eric Smeets, Inge Francois, Yves Sznajer, Margarita Craen, George Leventopoulos, Léon Mutesa, Willy Vandecasseye, Guy Massa, Hulya

Journal:

Genes, Chromosomes and Cancer

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

11

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

Yves Sznajer, Clarisse Baumann, Albert David, Hubert Journel, Didier Lacombe, Yves Perel, Pascale Blouin, Jean-François Segura, Jean-Pierre Cezard, Michel Peuchmaur, Tomy Vulliamy, Inderjeet Dokal, Al

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 317 KB

english, 2003

12

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

Yves Sznajer, H. Annika Siitonen, Gaia Roversi, Chantal Dangoisse, Michèle Scaillon, France Ziereisen, Sylvie Tenoutasse, Marjo Kestilä, Lidia Larizza

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

13

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh-Bergès, I Delpierre, S Audollent, S Wiener-Vacher, A-L Mansbach, J Amiel, C Baumann, D Bremond-Gignac, T Attié-Bitach, A Verloes, D Sanlaville

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 436 KB

english, 2007

14

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc, Désir, Julie

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 473 KB

english, 2010

15

DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, Sarah Smithson, Céline Huber, Geneviève Baujat, Elisabeth Flori, Laura Tecco, Denise Cavalcanti, Anne-Lise Delezoide,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 925 KB

english, 2009

16

Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency

Nicolas Deconinck, Anissa Messaaoui, France Ziereisen, Hazim Kadhim, Yves Sznajer, Karine Pelc, Marie Cécile Nassogne, Marie T. Vanier, Bernard Dan

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 809 KB

english, 2008

17

Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2

Arash Ghalamkarpour, Christian Debauche, Eric Haan, Nicole Van Regemorter, Yves Sznajer, Dominique Thomas, Nicole Revencu, Yves Gillerot, Laurence M. Boon, Miikka Vikkula

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 184 KB

english, 2009

18

P27.6 Pelizaeus Merzbacher-like disease (PMLD): report of a patient with a new mutation in the GJA12/GJC2 gene

J. Piccirilli, N. Deconinck, A. Monier, J. Molano, P. Martinez-Montero, I. Fasciani, D. Gonzalez-Nieto, L. Barrio, Y. Sznajer, T. Sekhara

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

19

Prévalence de la microdélétion 22q11 dans les cardiopathies conotroncales en période néonatale

L Iserin, Y Sznajer, D Sidi, J Kachaner, D Théophile, D Bonnet

Journal:

Archives de Pédiatrie

Year:

1995

File:

PDF, 95 KB

1995

20

Airway eicosanoids in acute severe respiratory syncytial virus bronchiolitis

Yves Sznajer, Jay Y. Westcott, Sally E. Wenzel, Bruce Mazer, Marisa Tucci, Baruch Joseph Toledano

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 119 KB

english, 2004

21

150 CIRCADIAN ANOMALIES IN WILLIAMS SYNDROME

J. Groswasser, A. Meulemans, T. Sekhara, Y. Sznajer, S. Scaillet

Journal:

Year:

2009

Language:

english

File:

PDF, 59 KB

english, 2009

22

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

Gambineri, Eleonora, Perroni, Lucia, Passerini, Laura, Bianchi, Lucia, Doglioni, Claudio, Meschi, Franco, Bonfanti, Riccardo, Sznajer, Yves, Tommasini, Alberto, Lawitschka, Anita, Junker, Anne, Dunsth

Journal:

Journal of Allergy and Clinical Immunology

Year:

2008

Language:

english

File:

PDF, 555 KB

english, 2008

23

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

Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, MA, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Franc

Journal:

Clinical Genetics

Year:

2013

Language:

english

File:

PDF, 657 KB

english, 2013

24

Lésions hypopigmentées en tourbillons et tableau syndromique : n’y a-t-il que l’hypomélanose de Ito ?

Dekeuleneer, V., Deggouj, N., Nassogne, M.-C., Sidi, D., Cormier-Daire, V., Sznajer, Y., Tennstedt, D.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2012

Language:

french

File:

PDF, 49 KB

french, 2012

25

Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy

Sibille, C.-A., Triffaux, M., Claes, K., Sznajer, Y., Gille, M.

Journal:

Revue Neurologique

Year:

2013

Language:

english

File:

PDF, 397 KB

english, 2013

26

PP6.1 – 2162 Hamartin and tuberin expression studies: further insights into TSC1 and TSC2 genes in a cohort of patients with well defined phenotype

Lannoy, N, Durant, J-F, Corbisier, T, Ambroise, J, Nellist, M, Jansen, A, Pelc, K, Nassogne, M-C, Gala, J-L, Lederer, D, Vikkula, M, Sznajer, Y

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

27

Autosomal insertional translocation mimicking an X-linked mode of inheritance

Thierry, Gaelle, Pichon, Olivier, Briand, Annaig, Poulain, Damien, Sznajer, Yves, David, Albert, Le Caignec, Cédric

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 516 KB

english, 2013

28

P31 – 2001 Refractory epilepsy and retinal involvement in a patient with ring chromosome 14

Deconinck, N, Diakogeorgiou, A, Pelc, K, Monnier, A, Deleener, A, Sznajer, Y

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

29

P196 - Alopécie diffuse et hyper IgM syndrome lié à l’X

Hortala, M., Dangoisse, C., Bruderer, P., Sznajer, Y., Sass, U., Song, M.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2005

Language:

french

File:

PDF, 68 KB

french, 2005

30

An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease

De Montpellier, Sybille, Sznajer, Yves, Amiel, Jeanne, Francois, Genevieve, Nassogne, Marie-Cecile, Debauche, Christian, Scheers, Isabelle

Journal:

European Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 97 KB

english, 2014

31

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1

Bloch, Mercedes, Leonard, Anissa, Diplas, Andreas A., Pepermans, Xavier, Emanuel, Beverly S., Rocca, Maria Santa, Revencu, Nicole, Sznajer, Yves

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 3.00 MB

english, 2014

32

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Navarro, Claire Laure, Esteves-Vieira, Vera, Courrier, Sébastien, Boyer, Amandine, Duong Nguyen, Thuy, Huong, Le Thi Thanh, Meinke, Peter, Schröder, Winnie, Cormier-Daire, Valérie, Sznajer, Yves, Amor

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.83 MB

english, 2014

33

The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene

Sznajer, Y., Keren, B., Baumann, C., Pereira, S., Alberti, C., Elion, J., Cave, H., Verloes, A.

Journal:

Year:

2007

Language:

english

File:

PDF, 279 KB

english, 2007

34

Clinical utility gene card for: poikiloderma with neutropenia

Larizza, Lidia, Negri, Gloria, Colombo, Elisa Adele, Volpi, Ludovica, Sznajer, Yves

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 206 KB

english, 2013

35

PP03.10 – 2967: Niemann-Pick C disease: Diagnostic challenge

Gobert, C., Sznajer, Y., Clapuyt, P., Latour, P., Nassogne, M.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 84 KB

english, 2015

36

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion

Calado, J., Sznajer, Y., Metzger, D., Rita, A., Hogan, M. C., Kattamis, A., Scharf, M., Tasic, V., Greil, J., Brinkert, F., Kemper, M. J., Santer, R.

Journal:

Nephrology Dialysis Transplantation

Year:

2008

Language:

english

File:

PDF, 561 KB

english, 2008

37

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Desmyter, L., Ghassibe, M., Revencu, N., Boute, O., Lees, M., François, G., Verellen-Dumoulin, C., Sznajer, Y., Moncla, A., Benateau, H., Claes, K., Devriendt, K., Mathieu, M., Van Maldergem, L., Addo

Journal:

Molecular Syndromology

Year:

2010

Language:

english

File:

PDF, 403 KB

english, 2010

38

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias

Verloes, A., Raoul, M., Genevieve, D., Sznajer, Y., Demarche, M., Lombet, J., Rigo, V., Misson, J.P., Collignon, L., Vanwijck, F., Vanwijck, R.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 270 KB

english, 2004

39

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

Urquhart, Jill, Roberts, Rebecca, de Silva, Deepthi, Shalev, Stavit, Chervinsky, Elena, Nampoothiri, Sheela, Sznajer, Yves, Revencu, Nicole, Gunasekera, Romesh, Suri, Mohnish, Ellingford, Jamie, Willi

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 861 KB

english, 2016

40

Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports

Galliani, Eva, Burglen, Lydie, Kadlub, Natacha, Just, Walter, Sznajer, Yves, de Villemeur, Thierry Billette, Soupre, Véronique, Picard, Arnaud, Vazquez, Marie-Paule

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

41

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

Van den Bergh, P., Sznajer, Y., Van Parijs, V., van Tol, W., Wevers, R., Lefeber, D., Xu, L., Lek, M., MacArthur, D., Xu, L., Lek, M., MacArthur, D., Johnson, K., Phillips, L., Topf, A., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 213 KB

english, 2016

42

‘De novo’Col4A2mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

Kollmann, Paul, Peeters, André, Vanakker, Olivier, Sznajer, Yves

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 1024 KB

english, 2016

43

“Serpentine-like syndrome”–A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies

Beleza-Meireles, Ana, Steenhaut, Patricia, Hocq, Catheline, Clapuyt, Philippe, Bernard, Pierre, Debauche, Christian, Sznajer, Yves

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.01 MB

english, 2016

44

Neurobehavioural vulnerability and autistic traits in RASopathies

Journal:

Developmental Medicine & Child Neurology

Year:

2017

Language:

english

File:

PDF, 33 KB

english, 2017

45

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state

Issa, Sarah, Bondurand, Nadege, Faubert, Emmanuelle, Poisson, Sylvain, Lecerf, Laure, Nitschke, Patrick, Deggouj, Naima, Loundon, Natalie, Jonard, Laurence, David, Albert, Sznajer, Yves, Blanchet, Pat

Journal:

Year:

2017

Language:

english

File:

PDF, 866 KB

english, 2017

46

Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy” [Neuromuscular disorders 27/11 (2017) 1043–1046]

Van den Bergh, P.Y.K., Sznajer, Y., Van Parys, V., van Tol, W., Wevers, R.A., Lefeber, D.J., Xu, L., Lek, M., MacArthur, D.G., Johnson, K., Phillips, L., Töpf, A., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 313 KB

english, 2018

47

Improved diagnosis in non-immune hydrops fetalis using a standardized algorithm

Laterre, Marie, Bernard, Pierre, Vikkula, Miika, Sznajer, Yves

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 692 KB

english, 2018

48

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series

Navarro Moreno, Constanza, Delestienne, Amaury, Marbaix, Etienne, Aydin, Selda, Hörtnagel, Konstanze, Lechner, Sarah, Sznajer, Yves, Beauloye, Véronique, Maiter, Dominique, Lysy, Philippe A.

Journal:

Hormone Research in Paediatrics

Year:

2018

Language:

english

File:

PDF, 1.01 MB

english, 2018

49

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability

Giehl, K, Herzinger, T, Wolff, H, Sárdy, M, Braunmühl, T, Dekeuleneer, V, Sznajer, Y, Tennstedt, D, Boes, P, Rapprich, S, Wagner, N, Betz, R, Braun-Falco, M, Strom, T, Ruzicka, T, Eckstein, G

Journal:

Acta Dermato Venereologica

Year:

2016

Language:

english

File:

PDF, 1.22 MB

english, 2016

50

Patient with confirmed leopard syndrome developing multiple myeloma

Colmant, Caroline, Franck, Deborah, Marot, Liliane, Matthijs, Gert, Sznajer, Yves, Blomme, Sandrine, Tromme, Isabelle

Journal:

Dermatology Practical & Conceptual

Year:

2018

Language:

english

File:

PDF, 581 KB

english, 2018

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