List of bibliographic references
Number of relevant bibliographic references: 226.
[20-40] [
0 - 20][
0 - 50][
40-60]
| Ident. | Authors (with country if any) | Title |
|---|
| 000B86 (1993) |
M. Urioste [Espagne] ; José I. Rodríguez [Espagne] ; José M. Barcia [Espagne] ; Martín Martín [Espagne] ; Rosa Escribá [Espagne] ; Marina Pardo [Espagne] ; J. Camino [Espagne] ; María Luisá Martínez- Frías [Espagne] | Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies |
| 000C54 (2002) |
David Schlessinger [États-Unis] ; Luisa Herrera [États-Unis] ; Laura Crisponi [Italie] ; Steven Mumm [États-Unis] ; Antonio Percesepe [Italie] ; Massimo Pellegrini [Italie] ; Giuseppe Pilia [Italie] ; Antonino Forabosco [Italie] | Genes and translocations involved in POF |
| 000C60 (1998) |
Michio Teraoka [Japon] ; Koji Narahara [Japon] ; Yuji Yokoyama [Japon] ; Kazushiro Tsuji [Japon] ; Kiyoshi Kikkawa [Japon] ; Satoko Ito [Japon] ; Kiyoko Koyama [Japon] ; Yoshiki Seino [Japon] | 45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic, and molecular studies in four individuals |
| 000D38 (1995) |
Shirley Korula [États-Unis] ; Libby Wilson [États-Unis] ; Janet Salomonson [États-Unis] | Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate |
| 000D52 (1993) |
Julie L. Zenger-Hain [États-Unis] ; Anne Wiktor [États-Unis] ; Jose Goldman [États-Unis] ; Daniel L. Van Dyke [États-Unis] ; Lester Weiss [États-Unis] | X‐inactivation pattern in an Ullrich–Turner syndrome patient with a small ring X and normal intelligence |
| 000E16 (1988) |
R. Lin [États-Unis] ; Kenneth L. Garver [États-Unis] ; James F. Reynolds | Monozygotic turner syndrome twins—correlation of phenotype severity and heart defect |
| 000F91 (1987) |
Susan O. Lewin [États-Unis] ; Helen E. Hughes [Canada] ; John M. Opitz ; James F. Reynolds | German syndrome in sibs |
| 001068 (1985) |
Heirie M. M. Mendez [Brésil, États-Unis] ; John M. Opitz [États-Unis] ; James F. Reynolds | Noonan syndrome: A review |
| 001081 (1991) |
Mary L. Fryer [Royaume-Uni] ; P. J. Holt [Royaume-Uni] ; H. E. Hughes [Royaume-Uni] | The cardio‐facio‐cutaneous (CFC) syndrome and Noonan syndrome: Are they the same? |
| 001086 (1994) |
Isabel Fernandez [Japon] ; Masato Tsukahara [Japon] ; Hiroshi Mito [Japon] ; Hideki Yoshii [Japon] ; Masashi Uchida [Japon] ; Kiyosato Matsuo [Japon] ; Tadashi Kajii [Japon] | Congenital heart defects in Aarskog syndrome |
| 001090 (1998) |
João M. De Pina-Neto [Brésil] ; Nivaldo Vieira De Souza [Brésil] ; Maria Angeles S. L. Velludo [Brésil] ; Gleice B. D. Perosa [Brésil] ; Maurício M. S. De Freitas [Brésil] ; José F. Colafêmina [Brésil] | Retinal changes and tumorigenesis in Ramon syndrome: Follow‐up of a Brazilian family |
| 001110 (1992) |
Angela Opitz [États-Unis] | Harold Francis Falls: Eye geneticist and pioneer American medical geneticist |
| 001119 (1986) |
John M. Opitz [États-Unis] ; John M. Opitz ; James F. Reynolds | Rett syndrome: Some comments on terminology and diagnosis |
| 001137 (1984) |
M. Krogsgaard Hersh [États-Unis] ; Bernard Weisskopf [États-Unis] ; Crystal Decoster [États-Unis] ; John M. Opitz | Forearm fullness in Coffin‐Lowry syndrome: A misleading yet possible early diagnostic clue |
| 001163 (1982) |
Karin Freire-Maia [États-Unis, Brésil] ; Marta Pinheiro [États-Unis] ; John M. Opitz [États-Unis] ; Jürgen Herrmann | The neurofaciodigitorenal (NFDR) syndrome |
| 001219 (1989) |
Jefrrey P. Sorge [Italie] ; Filippo Di Forti [Italie] ; Gioacchino Scarano [Italie] ; Valerio Ventruto [Italie] ; Leopoldo Zelante [Italie] ; Bruno Dallapiccola [Italie] | CFC syndrome: Report on three additional cases |
| 001232 (1990) |
Inge Buntinx [Belgique] ; Inge Majewski [Allemagne] | Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay |
| 001239 (1993) |
James K. Ohzeki [Japon] ; Keiichi Hanaki [Japon] ; Hiroko Motozumi [Japon] ; Hiroko Ohtahara [Japon] ; Hiroshi Urashima [Japon] ; Kazuo Shiraki [Japon] | Assessment of subcutaneous fat using ultrasonography in the Ullrich–Turner syndrome |
| 001298 (1989) |
Joseph Bawle ; M. Horton | Autosomal dominant microcephaly with mental retardation |
| 001312 (1994) |
Joe J. Hoo [États-Unis] ; Mary Kreiter [États-Unis] ; Nancy Halverson [États-Unis] ; Anthony Perszyk [États-Unis] | 3C (cranio‐cerebello‐cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome |
| 001316 (1982) |
J. R. Casley Coco [Argentine] ; Victor B. Penchaszadeh [Argentine] ; John M. Opitz | Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause |
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Curation
HfdIndexSelect -h $EXPLOR_AREA/Data/Istex/Curation/ISSN.i -k "0148-7299"
HfdIndexSelect -h $EXPLOR_AREA/Data/Istex/Curation/ISSN.i \
-Sk "0148-7299" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Curation
|type= indexItem
|index= ISSN.i
|clé= 0148-7299
}}
| This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024 |  |
