-
1
-
-
0019299076
-
Aicardi syndrome in a male infant. Editorial correspondence
-
(1980)
J Pediatr
, vol.97
, pp. 1040-1041
-
-
Aicardi, J.1
-
7
-
-
0018080569
-
Incontinentia pigmenti. Report of a case with persisten activity into adult life
-
(1979)
Cutis
, vol.22
, pp. 621-624
-
-
Barnes, C.M.1
-
10
-
-
0015446156
-
Neues zur Genetik und Klassifikation der Muskeldystrophien; Hemizygot letaler Typ?
-
(1972)
Humangenetik
, vol.17
, pp. 1-22
-
-
Becker, P.E.1
-
14
-
-
84932042677
-
-
Birth Defects Compendium Second Ed, Alan R Liss, Luc 1979. Bergsma D (ed) The National Foundation March of Dimes. The Macmillan Press Ltd
-
-
-
-
24
-
-
0017748582
-
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings
-
(1977)
Clin Genet
, vol.12
, pp. 290-296
-
-
Cao, A.1
Cianchetti, C.2
Signarini, E.3
Loi, M.4
Sanna, G.5
de Virgilis, S.6
-
33
-
-
0344466884
-
Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita
-
(1949)
J Invest dermatol
, vol.13
, pp. 233-247
-
-
Curth, H.O.1
-
41
-
-
0017054944
-
Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome)
-
(1976)
Neurology
, vol.26
, pp. 1152-1156
-
-
De Jong, J.G.Y.1
Delleman, J.W.2
Houben, M.3
Manschot, W.A.4
De Minjer, A.5
Mol, J.6
Slooff, J.L.7
-
47
-
-
0019521688
-
A previously unreported dominantly inherited syndrome of shortness of stature, ear malformations and hip dislocation: the Coxoauricular syndrome-autosomal or X-linked male-lethal
-
(1981)
Am J Med Genet
, vol.8
, pp. 173-180
-
-
Duca, D.1
Ciovirnache, M.2
-
52
-
-
84932042679
-
-
Essig F (1970) Die Vererbung der Incontinentia Pigmenti (Bloch-Sulzberger)-Zur Frage X-chromosomaler Letalfaktoren beim Menschen. Med. Dissertation, Münster
-
-
-
-
67
-
-
0344466886
-
Chondrodysplasia Punctata Typ Conradi-Hünermann
-
(1979)
Z Hautkr
, vol.54
, pp. 676-677
-
-
Goerttler, F.1
-
73
-
-
0020351155
-
X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (Osteodysplasty) syndrome? A reappraisal (letter to the editor)
-
(1982)
Am J Med Genet
, vol.13
, pp. 465-467
-
-
Gorlin, R.J.1
Knier, J.2
-
82
-
-
0018099115
-
Genetische Interpretation streifenförmiger Hautanomalien
-
(1978)
Der Hautarzt
, vol.29
, pp. 357-363
-
-
Happle, R.1
-
84
-
-
0019471592
-
Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata
-
(1981)
Clin Genet
, vol.19
, pp. 64-66
-
-
Happle, R.1
-
85
-
-
0018509872
-
Skin markers of X-linked dominant chondrodysplasia punctata
-
(1979)
Arch Dermatol
, vol.115
, pp. 931
-
-
Happle, R.1
-
86
-
-
0018611617
-
X-linked dominant chondrodysplasia punctata: review of literature and report of a case
-
(1979)
Hum Genet
, vol.53
, pp. 65-73
-
-
Happle, R.1
-
95
-
-
84932042670
-
-
Helin I, Jodak U (1981) A syndrome of congenital hypoplasia of the alae nasi, situs inversus and severe hypoproteinemia in two siblings. J Pediatr 932–934
-
-
-
-
103
-
-
84932042671
-
-
Hopkins IJ, Humphrey I, Keith CG, Susman M, Webb GC, Turner EK (1979) The Aicardi syndrome in a 47,XXY male.
-
-
-
-
105
-
-
34249848178
-
Aicardi syndrome in a male infant. Editorial correspondence
-
(1980)
J Pediatr
, vol.97
, pp. 1041-1042
-
-
Hunter, A.G.W.1
-
108
-
-
84932042690
-
-
Jackson R, Nigam S (1962) Incontinentia pigmenti: A report of three cases in one family. Pediatrics 433–442
-
-
-
-
110
-
-
0015183336
-
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption
-
(1971)
J Pediatr
, vol.79
, pp. 982-987
-
-
Johanson, A.1
Blizzard, R.2
-
120
-
-
3242809280
-
Incontinentia pigmenti. Bericht über neun Erkrankungen in einer Familie und einen Obduktionsbefund
-
(1964)
Ann Paediatr
, vol.202
, pp. 92-100
-
-
Küster, F.1
Olbing, H.2
-
125
-
-
84932042689
-
-
Leiber B, Olbrich G (1972) Die klinischen Syndrome, 5. Aufl. Urban und Schwarzenberg
-
-
-
-
129
-
-
0016548130
-
Half chromatid mutations may explain incontinentia pigmenti in males
-
(1975)
Am J Hum Genet
, vol.27
, pp. 690-691
-
-
Lenz, W.1
-
134
-
-
0001363327
-
Sex chromatin and gene action in the mammalian X-chromosome
-
(1962)
Am J Hum Genet
, vol.14
, pp. 135-148
-
-
Lyon, M.F.1
-
135
-
-
0015239907
-
Possible mechanisms of X-chromosome inactivation
-
(1971)
Nature
, vol.232
, pp. 229-232
-
-
Lyon, M.F.1
-
144
-
-
84932042687
-
-
Mery JPh, Simon P, Honitte H, Tanquerel T, Toulet R, Kanfer A (1978) A propos de deux observations de maladie polycystique rénale de l'adulte associée au syndrome oral-facial-digital. Soc Nephrol 892–893
-
-
-
-
145
-
-
84932042686
-
-
Michel Y (1971) Hypoplasie dermique en aires avec polydystrophies ecto-mesodermiques. Med. Dissertation, Rouen
-
-
-
-
153
-
-
0016364728
-
Studies of malformation syndromes of man; XXXIII — The FG syndrome; an X-linked recessive syndrome of multiple congenital anomalies and mental retardation
-
(1974)
Zschr Kinderheilk
, vol.117
, pp. 1-18
-
-
Opitz, J.M.1
Kaveggia, E.G.2
-
168
-
-
84932042684
-
-
Ropers HH, Zuffardi O, Bianchi E, Tiepolo L (1982) Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi syndrome) in a girl with balanced X/3 translocation. Hum Genet (in press)
-
-
-
-
176
-
-
0015068925
-
Chondrodystrophia calcificans congenita (Conradi's disease)with cutaneous changes
-
(1971)
Birth Defects
, vol.7-8
, pp. 309
-
-
Scott, C.I.1
-
177
-
-
0014981421
-
Addendum to Spranger JW, Opitz JM, Bidder U: Heterogeneity of chondrodysplasia punctata
-
(1971)
Humangenetik
, vol.11
, pp. 190-212
-
-
Scott, C.1
-
180
-
-
84932042685
-
-
Shih VE (1978) Ornithine-carbamyl-transferase deficiency. The Metabolic Basis of Inherited Disease, fourth ed, Stanbury JB, Wyngaarden JB, Fredrickson DS. McGraw-Hill Book Company; a Blakiston Publication, pp 368–371
-
-
-
-
181
-
-
0014439734
-
Hyperornithinemia, hyperammonemia and homocitrullinuria; a new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation
-
(1969)
Am J Dis Child
, vol.117
, pp. 83-92
-
-
Shih, V.E.1
Efron, M.L.2
Moser, H.W.3
-
190
-
-
84932042682
-
-
Sundhausen G (1971) Die Klinik der fokalen dermalen Hypoplasie. Med. Dissertation, Mainz
-
-
-
-
198
-
-
0014561735
-
Proteolytic and lipolytic deficiency of the exocrine pancreas
-
(1969)
J Pediatr
, vol.75
, pp. 221-228
-
-
Townes, P.L.1
-
199
-
-
0019471863
-
Identity of two syndromes. Proteolytic, lipolytic and amylolytic deficiency of the exocrine pancreas with congenital anomalies
-
(1981)
Am J Dis Child
, vol.135
, pp. 248-250
-
-
Townes, P.L.1
White2
-
214
-
-
0014728729
-
Focal dermal hypoplasia; ocular and general manifestations with a survey of the literature
-
(1970)
Acta Ophthalmol
, vol.48
, pp. 525-536
-
-
Warburg, M.1
-
225
-
-
0019808729
-
Partial ornithine transcarbamylase deficiency simulating Reye syndrome
-
(1981)
J Pediatr
, vol.99
, pp. 929-931
-
-
Yokoi, T.1
Honke, K.2
Funabashi, T.3
hyashi, R.4
Suzuki, Y.5
Taniguchi, N.6
Hosoya, M.7
Saheki, T.8
|