Hadj‐Rabia, S.: search on Z-Library

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1

Subcutaneous fat necrosis of the newborn: a systematic evaluation of risk factors, clinical manifestations, complications and outcome of 16 children

E. Mahé, N. Girszyn, S. Hadj-Rabia, C. Bodemer, D. Hamel-Teillac, Y. De Prost

Journal:

British Journal of Dermatology

Year:

2007

Language:

english

File:

PDF, 170 KB

english, 2007

2

Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: Report of a case and literature review

Clauss, Francois, Waltmann, Etienne, Barriere, Philippe, Hadj-Rabia, Smaïl, Manière, Marie-Cecile, Schmittbuhl, Matthieu

Journal:

Journal of Cranio-Maxillofacial Surgery

Year:

2014

Language:

english

File:

PDF, 1.41 MB

english, 2014

3

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Kracker, Sven, Suarez, Felipe, Bahi-Buisson, Nadia, Hadj-Rabia, Smail, Fischer, Alain, Munnich, Arnold, Burgun, Anita

Journal:

Journal of Biomedical Informatics

Year:

2017

File:

PDF, 2.57 MB

2017

4

Dento-Craniofacial Phenotypes and underlying Molecular Mechanisms in Hypohidrotic Ectodermal Dysplasia (HED): a Review

Clauss, F., Maniere, M.-C., Obry, F., Waltmann, E., Hadj-Rabia, S., Bodemer, C., Alembik, Y., Lesot, H., Schmittbuhl, M.

Journal:

Journal of Dental Research

Year:

2008

Language:

english

File:

PDF, 941 KB

english, 2008

5

Effectiveness of topical propranolol 4% gel in the treatment of pyogenic granuloma in children

Mashiah, Jacob, Hadj-Rabia, Smail, Slodownik, Dan, Harel, Avikam, Sprecher, Eli, Kutz, Ana

Journal:

The Journal of Dermatology

Year:

2018

Language:

english

File:

PDF, 236 KB

english, 2018

6

Épidermolyse bulleuse Burden Score : évaluation du fardeau des familles

Dufresne, H., Hadj-Rabia, S., Taieb, C., Bodemer, C.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2014

Language:

french

File:

PDF, 64 KB

french, 2014

7

Pertinence diagnostique de la biopsie cutanée chez 4 patientes atteintes de CDPX2 : étude rétrospective anatomoclinique de 66 cas d’ichtyose par prolifération

Leclerc-Mercier, S., Fraitag, S., Bodemer, C., Fournet, J.-C., Hadj-Rabia, S.

Journal:

Annales de Pathologie

Year:

2011

Language:

french

File:

PDF, 68 KB

french, 2011

8

Family burden in inherited ichthyosis: creation of a specific questionnaire

Hélène Dufresne, Smail Hadj-Rabia, Cécile Méni…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 371 KB

english, 2013

9

Un cas de syndrome de « chevauchement » Schimmelpenning (SSP) et Sturge-Weber (SSW)

Ferneiny, M., Boccara, O., Brunelle, F., Bodemer, C., Hadj-Rabia, S.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2013

Language:

french

File:

PDF, 74 KB

french, 2013

10

Prescriptions hors AMM (autorisation de mise sur le marchÃ©) dans le psoriasis de lâenfant

MahÃ©, E., Corgibet, F., Maccari, F., Hadj-Rabia, S., Phan, C., Ruer-Mulard, M., BoralÃ©vi, F., Barbarot, S., Bursztejn, A.-C., Lahfa, M., Severino-Freire, M., Aubin, F., BarthÃ©lÃ©my, H., Amy de la B

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2020

File:

PDF, 738 KB

2020

11

Apport de la microscopie optique dans la démarche diagnostique des ichtyoses

Leclerc-Mercier, S., Hadj-Rabia, S., Bourdon-Lanoy, E., de Peufeilhoux, L., Hovnanian, A., Bodemer, C., Fraitag, S.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2012

Language:

french

File:

PDF, 87 KB

french, 2012

12

Early management of sight threatening retinopathy in incontinentia pigmenti

Michel, Sarah, Reynaud, Clothilde, Daruich, Alejandra, Hadj-Rabia, Smail, Bremond-Gignac, Dominique, Bodemer, Christine, Robert, Matthieu P.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 576 KB

2020

13

A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti

Julie Steffann, Valérie Raclin, Asmae Smahi, Hayley Woffendin, Arnold Munnich, Sue J. Kenwrick, Anne-Gaelle Grebille, Alexandra Benachi, Yves Dumez, Jean-Paul Bonnefont, Smaïl Hadj-Rabia

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

14

Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study

Emilie Sbidian, Smaïl Hadj-Rabia, Vincent M Riccardi, Laurence L Valeyrie-Allanore, Sébastien Barbarot, Olivier Chosidow, Salah Ferkal, Diana Rodriguez, Pierre Wolkenstein, Sylvie Bastuji-Garin

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 250 KB

english, 2012

15

Incontinentia pigmenti burden scale: designing a family burden questionnaire

Taieb, Charles, Hadj-Rabia, Smail, Monnet, Jacques, Bennani, Mohammed, Bodemer, Christine

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 1.32 MB

2019

16

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

Tu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, Cédric Vialette, Salah Ferkal, Smaïl Hadj-Rabia, Christophe Glorion, Stanislas Lyonnet, Michel Zerah, Isabelle Kemlin, Diana Rodriguez, Sylvie

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 316 KB

english, 2011

17

心脸皮肤综合症中的皮肤表现

Bessis, D., Morice‐Picard, F., Bourrat, E., Abadie, C., Aouinti, S., Baumann, C., Best, M., Bursztejn, A.‐C., Capri, Y., Chiaverini, C., Coubes, C., Giuliano, F., Hadj‐Rabia, S., Jacquemont, M.‐L., La

Journal:

British Journal of Dermatology

Year:

2019

File:

PDF, 152 KB

2019

18

Facteurs de risque de corticophobie au cours de la dermatite atopique

Dufresne, H., Bataille, P., Bellon, N., Compain, S., DeladriÃ¨re, E., Bekel, L., Sbidian, E., Bodemer, C., Hadj-Rabia, S.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2020

File:

PDF, 287 KB

2020

19

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

El Hachem, May, Zambruno, Giovanna, Bourdon-Lanoy, Eva, Ciasulli, Annalisa, Buisson, Christiane, Hadj-Rabia, Smail, Diociaiuti, Andrea, Gouveia, Carolina F, Hernández-Martín, Angela, de Lucas Laguna,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 888 KB

english, 2014

20

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study

Dufresne, Helene, Hadj-Rabia, Smail, Taïeb, Charles, Bodemer, Christine

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 178 KB

english, 2013

21

Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED)

Hadj-Rabia, Smail, Jacob, Stéphane, Dufresne, Hélène, Mashiah, Jacob, Vaivre-Douret, Laurence, Bodemer, Christine

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 214 KB

english, 2014

22

Prévention de l’isolement social : une place dans le projet de soin ?

Dufresne, Hélène, Hadj-Rabia, Smail, Bodemer, Christine

Journal:

Médecine Palliative : Soins de Support - Accompagnement - Éthique

Year:

2011

Language:

french

File:

PDF, 167 KB

french, 2011

23

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-Rabia, Bert L Callewaert…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 374 KB

english, 2013

24

Le jeu de rôle et l’annonce de nouvelles difficiles :une place en chirurgie pédiatrique ?

Di Rocco, F., Di Rocco, F., Zerah, M., Pamphile, L., Diaz, A., Montmayor, J., Hadj-Rabia, S., Baugnon, T.

Journal:

Year:

2013

Language:

french

File:

PDF, 54 KB

french, 2013

25

心脸皮肤综合症中的皮肤表现

Bessis, D., Morice‐Picard, F., Bourrat, E., Abadie, C., Aouinti, S., Baumann, C., Best, M., Bursztejn, A.‐C., Capri, Y., Chiaverini, C., Coubes, C., Giuliano, F., Hadj‐Rabia, S., Jacquemont, M.‐L., La

Journal:

British Journal of Dermatology

Year:

2019

File:

PDF, 152 KB

2019

26

Isolation, purification and chemical characterization of a new angucyclinone compound produced by a new halotolerantNocardiopsissp. HR-4 strain

Hadj Rabia-Boukhalfa, Yamina, Eveno, Yannick, Karama, Solange, Selama, Okba, Lauga, Béatrice, Duran, Robert, Hacène, Hocine, Eparvier, Véronique

Journal:

World Journal of Microbiology and Biotechnology

Year:

2017

Language:

english

File:

PDF, 1006 KB

english, 2017

27

Épidermolyses bulleuses héréditaires : protocole national de diagnostic et de soins (PNDS)

Chiaverini, C., Bourrat, E., Mazereeuw-Hautier, J., Hadj-Rabia, S., Bodemer, C., Lacour, J.-P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2017

Language:

french

File:

PDF, 1.12 MB

french, 2017

28

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Venot, Quitterie, Blanc, Thomas, Rabia, Smail Hadj, Berteloot, Laureline, Ladraa, Sophia, Duong, Jean-Paul, Blanc, Estelle, Johnson, Simon C., Hoguin, Clément, Boccara, Olivia, Sarnacki, Sabine, Bodda

Journal:

Year:

2018

Language:

english

File:

PDF, 16.82 MB

english, 2018

29

Verrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation

Boccara, Olivia, Ariche-Maman, Sonia, Hadj-Rabia, Smail, Chrétien-Marquet, Bertrand, Frassati-Biaggi, Annonciade, Zazurca, Frédéric, Brunelle, Francis, Soupre, Veronique, Bodemer, Christine, Fraitag,

Journal:

Pediatric Dermatology

Year:

2018

Language:

english

File:

PDF, 879 KB

english, 2018

30

Visibility of the central canal on MRI

M. C. Petit-Lacour, P. Lasjaunias, C. Iffenecker, F. Benoudiba, M. Hadj Rabia, M. Hurth, D. Doyon

Journal:

Year:

2000

Language:

english

File:

PDF, 250 KB

english, 2000

31

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Smail Hadj-Rabia, Lekbir Baala, Pierre Vabres, Dominique Hamel-Teillac, Emmanuel Jacquemin, Monique Fabre, Stanislas Lyonnet, Yves de Prost, Arnold Munnich, Michelle Hadchouel, Asma Smahi

Journal:

Gastroenterology

Year:

2004

Language:

english

File:

PDF, 271 KB

english, 2004

32

A New Lamin A Mutation Associated with Acrogeria Syndrome

Hadj-Rabia, Smail, Mashiah, Jacob, Roll, Patrice, Boyer, Amandine, Bourgeois, Patrice, Van Kien, Philippe Khau, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara, Bodemer, Christine, Navarro, Claire

Journal:

The Journal of Investigative Dermatology

Year:

2014

Language:

english

File:

PDF, 852 KB

english, 2014

33

NF-1Score: A Prediction Score for Internal Neurofibromas in Neurofibromatosis-1

Sbidian, Emilie, Wolkenstein, Pierre, Valeyrie-Allanore, Laurence, Rodriguez, Diana, Hadj-Rabia, Smail, Ferkal, Salah, Lacour, Jean-Philippe, Leonard, Jean-Claude, Taillandier, Luc, Sportich, Stéphani

Journal:

The Journal of Investigative Dermatology

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

34

Palmoplantar psoriasis, a frequent and severe clinical type of psoriasis in children

Amode, R., Hadj-Rabia, S., Bursztejn, A.-C., Phan, A., Boralevi, F., Droitcourt, C., Mazereeuw-Hautier, J., Piram, M., Plantin, P., Absaq, C., Lasek-Duriez, A., Balguierie, X., Maruani, A., Beauchet,

Journal:

Journal of the European Academy of Dermatology and Venereology

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

35

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation

Cossiez Cacard, M.A., Coulombe, J., Bernard, P., Kaci, N., Bressieux, J.M., Souchon, P.F., Motte, J., Legeai-Mallet, L., Hadj-Rabia, S., Eschard, C.

Journal:

Journal of the European Academy of Dermatology and Venereology

Year:

2016

Language:

english

File:

PDF, 180 KB

english, 2016

36

Nail Psoriasis: A Systematic Evaluation in 313 Children with Psoriasis

Pourchot, Diane, Bodemer, Christine, Phan, Alice, Bursztejn, Anne-Claire, Hadj-Rabia, Smaïl, Boralevi, Franck, Miquel, Juliette, Hubiche, Thomas, Puzenat, Eve, Souillet, Anne-Laure, Kupfer, Ingrid, Pi

Journal:

Pediatric Dermatology

Year:

2017

Language:

english

File:

PDF, 333 KB

english, 2017

37

Impact of a rare chronic genodermatosis on family daily life: The example of epidermolysis bullosa

Dufresne, H, Hadj-Rabia, S, Bodemer, C

Journal:

British Journal of Dermatology

Year:

2018

Language:

english

File:

PDF, 483 KB

english, 2018

38

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

Dudoignon, Benjamin, Huber, Celine, Michot, Caroline, Di Rocco, Federico, Girard, Muriel, Lyonnet, Stanislas, Rio, Marlène, Rabia, Smail Hadj, Daire, Valérie Cormier, Baujat, Geneviève

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.64 MB

2019

39

Lâhamartome dyskÃ©rato-acantholytique hÃ©micorporel est aussi associÃ© Ã une dysfonction de la connexine 26

Bekel, L., Paugam, C., Mallet, S., Leclerc-Mercier, S., Fraitag, S., Macagno, N., Bodemer, C., Barbarot, S., Alby, C., Hadj-Rabia, S.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2019

File:

PDF, 186 KB

2019

40

Phénomène de Kasabach-Merritt : une série de 24 cas

Boccara, O., Fraitag, S., Fontaine, J., Hamel, D., Brunelle, F., Lasne, D., Orbach, D., de Prost, Y., Hadj-Rabia, S., Bodemer, C.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2013

Language:

french

File:

PDF, 61 KB

french, 2013

41

Pemphigus juvénile : caractéristiques cliniques à partir de dix cas

Methqal, A., Fraitag, S., Hamel Teillac, D., Ferneiny, M., Hadj Rabia, S., de Prost, Y., Bodemer, C.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2012

Language:

french

File:

PDF, 79 KB

french, 2012

42

Trois cas sévères d’épidermolyse bulleuse simple de Dowling Meara liés à des mutations du gène de la kératine 14

Hadj-Rabia, S., Titeux, M., Mazereew-Hautier, J., Prost-Squarcioni, C., Hamel, D., De Prost, Y., Hovnanian, A., Bodemer, C.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2006

Language:

french

File:

PDF, 92 KB

french, 2006

43

Unique subungueal keratoacanthoma revealing incontinentia pigmenti

Ferneiny, M., Hadj-Rabia, S., Regnier, S., Ortonne, N., Smahi, A., Steffann, J., Bonnefont, J.-P., Fraitag, S., Chosidow, O., Bodemer, C.

Journal:

Journal of the European Academy of Dermatology and Venereology

Year:

2015

Language:

english

File:

PDF, 289 KB

english, 2015

44

LB798 Latrogenic ‘genodermatoses’ induced by targeted therapy

Boussemart, L., Sfecci, A., Hadj-Rabia, S., Galibert, M., Dupuy, A.

Journal:

The Journal of Investigative Dermatology

Year:

2016

Language:

english

File:

PDF, 56 KB

english, 2016

45

Essai de phase 2a du sirolimus dans les hypertrophies liées à PIK3CA (PROMISE) : données préliminaires de tolérance dans la cohorte française

Luu, M., Fleck, C., Hadj-Rabia, S., Martin, L., Bessis, D., Coubes, C., Willems, M., Pinson, L., Vincent-Delorme, C., Phan, A., Baujat, G., Amiel, J., Loffroy, R., Bardou, M., Faivre, L., Vabres, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2016

Language:

french

File:

PDF, 60 KB

french, 2016

46

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes

Fournier, B.P., Bruneau, M.H., Toupenay, S., Kerner, S., Berdal, A., Cormier-Daire, V., Hadj-Rabia, S., Coudert, A.E., de La Dure-Molla, M.

Journal:

Journal of Dental Research

Year:

2018

Language:

english

File:

PDF, 900 KB

english, 2018

47

Facteurs cliniques et moléculaires associés à la régression de la mastocytose : étude d’une cohorte de 272 enfants

Polivka, L., Rossignol, J., Neuraz, A., Condé, D., Méni, C., Dubreuil, P., Maouche-Chrétien, L., Hadj-Rabia, S., Hermine, Olivier, Bodemer, C.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2019

File:

PDF, 120 KB

2019

48

MosaÃ¯cisme du gÃ¨ne RASA1Â chez un patient atteint de syndrome de Parkes-Weber

Boccara, O., Eyries, M., Pannier, S., Ariche-Maman, S., Hadj-Rabia, S., Coulet, F.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2020

File:

PDF, 288 KB

2020

49

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

Francesca Fusco, Alessandra Pescatore, Elodie Bal, Aida Ghoul, Mariateresa Paciolla, Maria Brigida Lioi, Michele D'Urso, Smail Hadj Rabia, Christine Bodemer, Jean Paul Bonnefont, Arnold Munnich, Maria

Journal:

Year:

2008

Language:

english

File:

PDF, 372 KB

english, 2008

50

The Rapp–Hodgkin syndrome results from mutations of the TP63 gene

Bougeard, Gaëlle, Hadj-Rabia, Smaïl, Faivre, Laurence, Sarafan-Vasseur, Nasrin, Frébourg, Thierry

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 196 KB

english, 2003

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